MELAS
MCID: MTC114
MIFTS: 63

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

MalaCards integrated aliases for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

Name: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 57 11 42 36 75
Melas Syndrome 57 11 19 42 43 14 71 75
Melas 57 24 19 42 58 75 73
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 19 5
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome 73
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 38
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes 58
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes 42
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes 58
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 58
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke 42
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode 42

Characteristics:


Inheritance:

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes: Mitochondrial 57
Melas: Mitochondrial inheritance 58

Prevelance:

Melas: 1-9/1000000 (Japan, Europe) 1-9/100000 (Finland) >1/1000 (Specific population) 58

Age Of Onset:

Melas: Adolescent,Adult,Childhood 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
variable age at onset
the mttl1 c.3243a-g transition is the most common mutation


HPO:

30
mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes:
Onset and clinical course variable expressivity


GeneReviews:

24
Penetrance In mtdna-related disorders, penetrance typically depends on mutational load and tissue distribution, which show random variation within families (see causes of phenotypic variability).

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

MedlinePlus Genetics: 42 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.

MalaCards based summary: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes, also known as melas syndrome, is related to mitochondrial myopathy and lactic acidosis, and has symptoms including myalgia, ophthalmoplegia and hemiparesis. An important gene associated with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Complex I biogenesis. The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart, and related phenotypes are eeg abnormality and muscle weakness

GARD: 19 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. People with MELAS can also have a buildup of lactic acid in their bodies that can lead to vomiting, abdominal pain, fatigue, muscle weakness, and difficulty breathing. The genes associated with MELAS are located in mitochondrial DNA and therefore follow a maternal inheritance pattern (also called mitochondrial inheritance). MELAS can be inherited from the mother only, because only females pass mitochondrial DNA to their children. In some cases, MELAS results from a new genetic change that was not inherited from a person's mother.

OMIM®: 57 MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting (Pavlakis et al., 1984; Montagna et al., 1988). Other mitochondrial encephalomyopathies include Leigh syndrome (LS; 256000), Kearns-Sayre syndrome (KSS; 530000), MERRF syndrome (545000), and Leber optic atrophy (535000). (540000) (Updated 08-Dec-2022)

Disease Ontology: 11 A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.

Orphanet: 58 A rare neurometabolic genetic disorder which is progressive and multisystemic due to mitochondrial dysfunction and that is characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes.

UniProtKB/Swiss-Prot: 73 Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness.

Wikipedia: 75 Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the family of... more...

GeneReviews: NBK1233

Related Diseases for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Diseases related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 418)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy 33.0 MT-TW MT-TS2 MT-TS1 MT-TL2 MT-TL1 MT-TE
2 lactic acidosis 33.0 MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1
3 mitochondrial complex i deficiency, nuclear type 1 32.6 MT-ND6 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
4 mitochondrial disease 32.5 MT-TW MT-TV MT-TS1 MT-TP MT-TL2 MT-TL1
5 mitochondrial encephalomyopathy 32.3 MT-TW MT-TS2 MT-TS1 MT-TL2 MT-TL1 MT-ND6
6 cortical blindness 31.9 MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
7 diabetes and deafness, maternally inherited 31.8 MT-TL1 MT-TK MT-TE
8 kearns-sayre syndrome 31.8 MT-TL2 MT-TL1 MT-TI MT-ND6 MT-ND5 MT-ND4
9 chronic progressive external ophthalmoplegia 31.7 MT-TL2 MT-TL1 MT-ND6 MT-ND4 MT-ND1 MT-CO1
10 mitochondrial complex iv deficiency, nuclear type 1 31.7 MT-TS1 MT-TL1 MT-CO1
11 3-methylglutaconic aciduria, type iii 31.7 MT-TS1 MT-ND6 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
12 myoclonic epilepsy associated with ragged-red fibers 31.6 MT-TS2 MT-TS1 MT-TQ MT-TP MT-TL1 MT-TK
13 leigh syndrome 31.6 MT-TW MT-TV MT-TL1 MT-TK MT-ND6 MT-ND5
14 early myoclonic encephalopathy 31.5 MT-TS1 MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
15 leber hereditary optic neuropathy, modifier of 31.3 MT-TW MT-TV MT-TS1 MT-TL2 MT-TL1 MT-TI
16 neuropathy 31.3 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
17 optic nerve disease 31.2 MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1
18 hereditary optic neuropathy 31.2 MT-ND6 MT-ND5 MT-ND4 MT-ATP6
19 leber optic atrophy and dystonia 30.8 MT-ND6 MT-ND5 MT-ND4 MT-ND1
20 leber plus disease 30.7 MT-TS1 MT-TA MT-ND6 MT-ND5 MT-ND4 MT-ND1
21 mitochondrial dna depletion syndrome 4a 30.4 MT-TL1 MT-TF MT-ND5 MT-ND4 MT-ND1 MT-ATP6
22 neuropathy, ataxia, and retinitis pigmentosa 30.4 MT-TL1 MT-ND6 MT-ND4 MT-ATP6
23 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 30.3 MT-TL1 MT-ND1 MT-ATP6
24 parkinson disease, mitochondrial 30.3 MT-TP MT-TK
25 myopathy 11.4
26 encephalopathy 11.4
27 stroke, ischemic 11.0
28 cerebrovascular disease 10.9
29 status epilepticus 10.8
30 metabolic acidosis 10.7
31 myoclonus 10.7
32 aphasia 10.6
33 intestinal pseudo-obstruction 10.6
34 sensorineural hearing loss 10.6
35 end stage renal disease 10.6
36 mitochondrial dna-associated leigh syndrome 10.6 MT-TW MT-TV MT-TL1 MT-TK MT-ND6 MT-ND5
37 mitochondrial dna depletion syndrome 10.6 MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1
38 dicrocoeliasis 10.6 MT-TS2 MT-TS1 MT-TK MT-TE MT-ND5 MT-ND1
39 deafness, nonsyndromic sensorineural, mitochondrial 10.6 MT-TS1 MT-TI MT-TH MT-ND4 MT-ND1 MT-CO1
40 sparganosis 10.6 MT-ND5 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
41 mitochondrial myopathy, infantile, transient 10.6 MT-TE MT-ND5 MT-ND1 MT-CO1 MT-ATP6
42 pearson marrow-pancreas syndrome 10.6 MT-TL1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
43 deafness, aminoglycoside-induced 10.6 MT-TS1 MT-ND6 MT-ND4 MT-CO1 MT-ATP6
44 mitochondrial metabolism disease 10.6 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
45 coenurosis 10.6 MT-ND5 MT-ND4 MT-ND1 MT-CO1
46 ancylostomiasis 10.6 MT-ND5 MT-ND4 MT-ND1 MT-CO1
47 cranial nerve disease 10.6 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
48 intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities 10.6 MT-TV MT-TQ MT-TK MT-TH MT-TF
49 fasciolopsiasis 10.6 MT-TE MT-ND6 MT-ND1 MT-ATP6
50 mitochondrial complex i deficiency, nuclear type 16 10.6 MT-ND6 MT-ND4 MT-ND1 MT-ATP6

Graphical network of the top 20 diseases related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:



Diseases related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

Symptoms & Phenotypes for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Human phenotypes related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

58 30 (show top 50) (show all 101)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002353
2 muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001324
3 ragged-red muscle fibers 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003200
4 increased serum lactate 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002151
5 migraine 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002076
6 lactic acidosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003128
7 abnormal mitochondria in muscle tissue 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008316
8 aphasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002381
9 dementia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000726
10 stroke-like episode 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002401
11 aplasia/hypoplasia of the cerebral white matter 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012429
12 widened cerebral subarachnoid space 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012766
13 depression 58 30 Frequent (33%) Frequent (79-30%)
HP:0000716
14 ataxia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001251
15 gait disturbance 58 30 Frequent (33%) Frequent (79-30%)
HP:0001288
16 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
17 short stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0004322
18 vomiting 58 30 Frequent (33%) Frequent (79-30%)
HP:0002013
19 myopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003198
20 myoclonus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001336
21 anxiety 58 30 Frequent (33%) Frequent (79-30%)
HP:0000739
22 memory impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0002354
23 encephalopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001298
24 increased csf lactate 58 30 Frequent (33%) Frequent (79-30%)
HP:0002490
25 bilateral tonic-clonic seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0002069
26 hemiparesis 58 30 Frequent (33%) Frequent (79-30%)
HP:0001269
27 visual loss 58 30 Frequent (33%) Frequent (79-30%)
HP:0000572
28 focal-onset seizure 58 30 Frequent (33%) Frequent (79-30%)
HP:0007359
29 short attention span 58 30 Frequent (33%) Frequent (79-30%)
HP:0000736
30 fluctuations in consciousness 58 30 Frequent (33%) Frequent (79-30%)
HP:0007159
31 increased csf protein 58 30 Frequent (33%) Frequent (79-30%)
HP:0002922
32 impaired visuospatial constructive cognition 58 30 Frequent (33%) Frequent (79-30%)
HP:0010794
33 recurrent paroxysmal headache 58 30 Frequent (33%) Frequent (79-30%)
HP:0002331
34 basal ganglia calcification 58 30 Frequent (33%) Frequent (79-30%)
HP:0002135
35 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
36 failure to thrive 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001508
37 constipation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002019
38 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
39 type ii diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005978
40 optic atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000648
41 proteinuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000093
42 nephropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000112
43 type i diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100651
44 fever 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001945
45 anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001903
46 vitiligo 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001045
47 dilated cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001644
48 progressive external ophthalmoplegia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000590
49 motor delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001270
50 cerebral cortical atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002120

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
diabetes mellitus

Muscle Soft Tissue:
myopathy
reduced muscle mass
ragged-red fibers on muscle biopsy

Cardiovascular Heart:
left ventricular hypertrophy
wolff-parkinson-white syndrome
left ventricular dysfunction
cardiac conduction abnormalities
heart failure

Metabolic Features:
lactic acidosis

Growth Other:
thin

Laboratory Abnormalities:
elevated resting serum lactate, increased with exercise
subsarcolemmal pleomorphic mitochondria on em

Cardiovascular Vascular:
hypertension

Head And Neck Eyes:
ophthalmoplegia
cortical blindness
hemianopsia
bilateral cataracts

Neurologic Central Nervous System:
encephalopathy
hemiparesis
dementia
stroke-like episodes
grand mal seizures
more
Abdomen Gastrointestinal:
episodic vomiting

Head And Neck Ears:
hearing loss, progressive bilateral sensorineural

Clinical features from OMIM®:

540000 (Updated 08-Dec-2022)

Symptoms:

11
  • myalgia

UMLS symptoms related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:


ophthalmoplegia; hemiparesis

Drugs & Therapeutics for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Drugs for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4
2 Vaccines Phase 4
3
Idebenone Approved, Investigational Phase 2 58186-27-9 3686
4
Arginine Approved, Investigational, Nutraceutical Phase 2 74-79-3 6322
5
Ubidecarenone Approved, Investigational, Nutraceutical Phase 2 303-98-0 5281915
6 Trace Elements Phase 2
7 Ubiquinone Phase 2
8 Micronutrients Phase 2
9 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid Phase 2
10 Antioxidants Phase 2
11 Protective Agents Phase 2
12
Nitric Oxide Approved Phase 1 10102-43-9 145068
13
Nicotinamide Approved, Investigational 98-92-0 936
14
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
15
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
16
L-Glutamine Approved, Investigational, Nutraceutical 56-85-9 5961
17 Folate
18 Vitamins
19 Vitamin B9
20 Vitamin B3
21 Nicotinic Acids
22 Antimetabolites
23 Vasodilator Agents
24 Vitamin B Complex
25 Hypolipidemic Agents
26 Lipid Regulating Agents
27 Pyruvate

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 Metabolic and Immune Responses to TIV in Patients With Mitochondrial Disease Completed NCT01831934 Phase 4
2 Efficacy and Safety Study of Vatiquinone for the Treatment of Mitochondrial Disease Subjects With Refractory Epilepsy Active, not recruiting NCT04378075 Phase 2, Phase 3 Vatiquinone
3 Investigation of Clinical Syndromes Associated With mtDNA Point Mutations: MELAS/DCA Clinical Trial Unknown status NCT00068913 Phase 2 Dichloroacetate
4 Pilot Study to Investigate the Efficacy of L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome. Completed NCT01603446 Phase 2 L-Arginine
5 A Phase IIb Double-blind, Randomised, Placebo-controlled, Multi-centre, Confirmative Three-way Cross-over Study on Cognitive Function With Two Doses of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation. Completed NCT04165239 Phase 2 KH176;Placebo
6 A Phase IIa Double-Blind, Randomized, Placebo-Controlled, Dose-Finding Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone
7 A Phase 2a Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Study in Individuals With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Completed NCT04475549 Phase 2 IW-6463 Tablets
8 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
9 A Phase IIb Open-label, Multi-centre, Extension Study to Explore the Long-term Safety and Efficacy of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation Who Have Completed the KHENERGYZE Study KH176-202. Recruiting NCT04604548 Phase 2 Oral administration of 100 mg KH176 twice daily
10 A Randomized Placebo Controlled, Double-blind Phase II Study to Explore the Safety, Efficacy and Pharmacokinetics of Sonlicromanol in Children With Genetically Confirmed Mitochondrial Disease Recruiting NCT04846036 Phase 2 Sonlicromanol;Placebo
11 A Phase Ia/Ib, Multiple-site Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of KL1333 After a Single and Multiple Ascending Oral Doses in Healthy Subjects and Patients With Primary Mitochondrial Disease Completed NCT03888716 Phase 1 KL1333;Placebo Oral Tablet
12 A Dose Block-randomized, Double-blind, Placebo-controlled, Single-dose, Dose-escalation, Phase I Clinical Study Completed NCT03056209 Phase 1 KL1333 25 mg;KL1333 50 mg;KL1333 100 mg;KL1333 200 mg;KL1333 400 mg;KL1333 600 mg;KL1333 800 mg;Placebo
13 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
14 Phase-1, Dose Finding and Safety Study on L- Citrulline Treatment of Nitric Oxide Deficiency in MELAS Recruiting NCT03952234 Phase 1 L-Citrulline
15 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
16 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Unknown status NCT03432871
17 Arginine Flux and Nitric Oxide Production in Patients With MELAS Syndrome and the Effect of Arginine and Citrulline Supplementation Completed NCT01339494 Early Phase 1
18 Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome in Order to Prevent Neurological Damage. Completed NCT04948138
19 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
20 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
21 Global Mitochondrial Registry to Define Natural History and Outcome Measures to Achieve Definite Trial Readiness for Mitochondrial Disorders Recruiting NCT05554835
22 Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations Recruiting NCT01532791
23 Clinical Long Term Evaluation of Glutamine Supplement in MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes) Syndrome in Order to Prevent Neurological Damage. Active, not recruiting NCT05255328
24 Tissue Study for Mitochondrial Disorders Enrolling by invitation NCT01803906

Search NIH Clinical Center for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

Cochrane evidence based reviews: melas syndrome

Genetic Tests for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Anatomical Context for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Organs/tissues related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

MalaCards : Brain, Eye, Heart, Kidney, Skeletal Muscle, Occipital Lobe, Globus Pallidus

Publications for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Articles related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

(show top 50) (show all 2405)
# Title Authors PMID Year
1
Mutations of the mitochondrial ND1 gene as a cause of MELAS. 62 24 57 5
15466014 2004
2
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 62 24 57 5
14967777 2004
3
An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. 62 24 57 5
11781695 2001
4
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. 62 24 57 5
11171912 2001
5
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). 62 24 57 5
1932147 1991
6
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. 62 24 57 5
2102678 1990
7
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. 62 57 5
23243073 2013
8
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. 62 57 5
20697048 2010
9
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. 62 57 5
18306232 2008
10
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. 62 57 5
10482110 1999
11
A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. 62 57 5
7669057 1995
12
Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. 62 57 5
1454794 1992
13
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. 62 57 5
1323207 1992
14
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. 62 57 5
1315123 1992
15
A specific point mutation in the mitochondrial genome of Caucasians with MELAS. 62 57 5
1684568 1991
16
Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). 62 57 5
1715668 1991
17
A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). 62 57 5
2268345 1990
18
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. 62 57 5
3395302 1988
19
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. 62 57 5
6093682 1984
20
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. 57 5
19349610 2009
21
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. 62 24 5
17535832 2007
22
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. 62 24 57
16682545 2006
23
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 62 24 5
15767514 2005
24
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 62 24 5
12796552 2003
25
Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 62 24 5
12509858 2003
26
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. 62 24 5
9798744 1998
27
MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. 62 24 5
9771776 1998
28
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. 62 24 5
9683591 1998
29
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 62 24 5
9299505 1997
30
Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. 62 24 5
8818955 1996
31
A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). 62 24 5
7804130 1994
32
A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). 62 24 5
7520241 1994
33
A new point mutation associated with mitochondrial encephalomyopathy. 62 24 5
8111377 1993
34
The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. 57 5
8442706 1993
35
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. 24 5
17823937 2007
36
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. 24 5
17172609 2006
37
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy. 24 5
8829635 1996
38
Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5. 62 5
26894521 2016
39
The phenotypic spectrum of fifty Czech m.3243A>G carriers. 62 5
27296531 2016
40
Metabolic rescue in pluripotent cells from patients with mtDNA disease. 62 57
26176921 2015
41
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome. 62 5
24830958 2014
42
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? 62 5
22781753 2012
43
Microangiopathy in the cerebellum of patients with mitochondrial DNA disease. 62 5
22577219 2012
44
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. 62 5
20610441 2010
45
Identification of novel mutations in five patients with mitochondrial encephalomyopathy. 62 5
18977334 2009
46
Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders. 62 5
19460299 2009
47
The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2. 62 5
18753147 2008
48
The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA. 62 5
18590963 2008
49
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. 62 5
18332249 2008
50
Progressive cerebral vascular degeneration with mitochondrial encephalopathy. 62 5
18203188 2008

Variations for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

ClinVar genetic disease variations for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

5 (show top 50) (show all 581)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TF m.586G>A SNV Pathogenic
30005 rs387906734 GRCh37: MT:586-586
GRCh38: MT:586-586
2 MT-ND5 m.12770A>G SNV Pathogenic
9699 rs267606894 GRCh37: MT:12770-12770
GRCh38: MT:12770-12770
3 MT-ND5 m.13045A>C SNV Pathogenic
9700 rs267606895 GRCh37: MT:13045-13045
GRCh38: MT:13045-13045
4 MT-ND5 m.13084A>T SNV Pathogenic
9701 rs267606896 GRCh37: MT:13084-13084
GRCh38: MT:13084-13084
5 MT-ND4 m.11084A>G SNV Pathogenic
9709 rs199476113 GRCh37: MT:11084-11084
GRCh38: MT:11084-11084
6 MT-ND1 m.3949T>C SNV Pathogenic
9735 rs199476124 GRCh37: MT:3949-3949
GRCh38: MT:3949-3949
7 MT-TW NC_012920.1(MT-CYB):m.5536_5537insT INSERT Pathogenic
689929 rs1603220010 GRCh37: MT:5536-5537
GRCh38: MT:5536-5537
8 MT-TT NC_012920.1(MT-CYB):m.15915G>A SNV Pathogenic
690233 rs1603225588 GRCh37: MT:15915-15915
GRCh38: MT:15915-15915
9 MT-TP m.15967G>A SNV Pathogenic
9572 rs199474701 GRCh37: MT:15967-15967
GRCh38: MT:15967-15967
10 MT-TL1 NC_012920.1(MT-CYB):m.3255G>A SNV Pathogenic
689861 rs1603218856 GRCh37: MT:3255-3255
GRCh38: MT:3255-3255
11 MT-TW NC_012920.1(MT-CYB):m.5540G>A SNV Pathogenic
689933 rs1603220014 GRCh37: MT:5540-5540
GRCh38: MT:5540-5540
12 MT-TW NC_012920.1(MT-CYB):m.5543T>C SNV Pathogenic
689935 rs1603220016 GRCh37: MT:5543-5543
GRCh38: MT:5543-5543
13 MT-TK NC_012920.1(MT-CYB):m.8362T>G SNV Pathogenic
690084 rs1603221423 GRCh37: MT:8362-8362
GRCh38: MT:8362-8362
14 MT-ND5 NC_012920.1(MT-ND5):m.12425del DEL Pathogenic
693440 rs1603223730 GRCh37: MT:12418-12418
GRCh38: MT:12418-12418
15 MT-TW m.5532G>A SNV Pathogenic
9557 rs199474674 GRCh37: MT:5532-5532
GRCh38: MT:5532-5532
16 MT-TW NC_012920.1(MT-CYB):m.5538G>A SNV Pathogenic
689930 rs1603220012 GRCh37: MT:5538-5538
GRCh38: MT:5538-5538
17 MT-TA m.5591G>A SNV Pathogenic
9625 rs121434458 GRCh37: MT:5591-5591
GRCh38: MT:5591-5591
18 MT-TS2 m.12207G>A SNV Pathogenic
9561 rs118203889 GRCh37: MT:12207-12207
GRCh38: MT:12207-12207
19 MT-ND6 m.14453G>A SNV Pathogenic
9692 rs199476107 GRCh37: MT:14453-14453
GRCh38: MT:14453-14453
20 MT-TL1 m.3251A>G SNV Pathogenic
9595 rs199474662 GRCh37: MT:3251-3251
GRCh38: MT:3251-3251
21 MT-ND1 NC_012920.1(MT-ND1):m.3380G>A SNV Pathogenic
692346 rs1603218926 GRCh37: MT:3380-3380
GRCh38: MT:3380-3380
22 MT-TE NC_012920.1(MT-CYB):m.14739G>A SNV Pathogenic
690211 rs1603224850 GRCh37: MT:14739-14739
GRCh38: MT:14739-14739
23 MT-ND1 NC_012920.1:m.3481G>A SNV Pathogenic
155880 rs587776433 GRCh37: MT:3481-3481
GRCh38: MT:3481-3481
24 MT-TL1 m.3274A>G SNV Pathogenic
9598 rs199474666 GRCh37: MT:3274-3274
GRCh38: MT:3274-3274
25 MT-TS1 m.7512T>C SNV Pathogenic
9562 rs199474817 GRCh37: MT:7512-7512
GRCh38: MT:7512-7512
26 MT-TL1 m.3271T>C SNV Pathogenic
Pathogenic
9590 rs199474658 GRCh37: MT:3271-3271
GRCh38: MT:3271-3271
27 MT-TQ m.4332G>A SNV Pathogenic
9616 rs199476141 GRCh37: MT:4332-4332
GRCh38: MT:4332-4332
28 MT-ND5 m.13513G>A SNV Pathogenic
9702 rs267606897 GRCh37: MT:13513-13513
GRCh38: MT:13513-13513
29 MT-ND5 m.13042G>A SNV Pathogenic
9703 rs267606898 GRCh37: MT:13042-13042
GRCh38: MT:13042-13042
30 MT-ND1 m.3697G>A SNV Pathogenic
9733 rs199476122 GRCh37: MT:3697-3697
GRCh38: MT:3697-3697
31 MT-TL1 NC_012920.1:m.3243A>G SNV Pathogenic
Pathogenic/Likely Pathogenic
9589 rs199474657 GRCh37: MT:3243-3243
GRCh38: MT:3243-3243
32 MT-TF m.616T>C SNV Pathogenic
9576 rs387906420 GRCh37: MT:616-616
GRCh38: MT:616-616
33 MT-TV m.1606G>A SNV Pathogenic
9548 rs199476143 GRCh37: MT:1606-1606
GRCh38: MT:1606-1606
34 MT-TF m.583G>A SNV Pathogenic
9573 rs118203885 GRCh37: MT:583-583
GRCh38: MT:583-583
35 MT-TV NC_012920.1(MT-CYB):m.1644G>A SNV Pathogenic
689846 rs587776441 GRCh37: MT:1644-1644
GRCh38: MT:1644-1644
36 MT-TL1 NC_012920.1(MT-CYB):m.3243A>T SNV Pathogenic
689856 rs199474657 GRCh37: MT:3243-3243
GRCh38: MT:3243-3243
37 MT-TL1 m.3256C>T SNV Pathogenic
9591 rs199474659 GRCh37: MT:3256-3256
GRCh38: MT:3256-3256
38 MT-TL1 m.3260A>G SNV Pathogenic
9596 rs199474663 GRCh37: MT:3260-3260
GRCh38: MT:3260-3260
39 MT-TL1 NC_012920.1:m.3291T>C SNV Pathogenic
223247 rs869312463 GRCh37: MT:3291-3291
GRCh38: MT:3291-3291
40 MT-TL1 NC_012920.1(MT-CYB):m.3302A>G SNV Pathogenic
689871 rs1603218878 GRCh37: MT:3302-3302
GRCh38: MT:3302-3302
41 MT-TL1 m.3303C>T SNV Pathogenic
9592 rs199474660 GRCh37: MT:3303-3303
GRCh38: MT:3303-3303
42 MT-TW m.5521G>A SNV Pathogenic
9556 rs199474673 GRCh37: MT:5521-5521
GRCh38: MT:5521-5521
43 MT-TN m.5728T>C SNV Pathogenic
9622 rs199476132 GRCh37: MT:5728-5728
GRCh38: MT:5728-5728
44 MT-TS1, MT-CO1 NC_012920.1:m.7445A>G SNV Pathogenic
9563 rs199474818 GRCh37: MT:7445-7445
GRCh38: MT:7445-7445
45 MT-TS1 NC_012920.1:m.7471dup DUP Pathogenic
42226 rs111033319 GRCh37: MT:7465-7466
GRCh38: MT:7465-7466
46 MT-TS1 m.7497G>A SNV Pathogenic
9569 rs387906419 GRCh37: MT:7497-7497
GRCh38: MT:7497-7497
47 MT-TS1 m.7511T>C SNV Pathogenic
9566 rs199474821 GRCh37: MT:7511-7511
GRCh38: MT:7511-7511
48 MT-TK m.8344A>G SNV Pathogenic
9579 rs118192098 GRCh37: MT:8344-8344
GRCh38: MT:8344-8344
49 MT-TK m.8356T>C SNV Pathogenic
9580 rs118192099 GRCh37: MT:8356-8356
GRCh38: MT:8356-8356
50 MT-TK m.8363G>A SNV Pathogenic
9581 rs118192100 GRCh37: MT:8363-8363
GRCh38: MT:8363-8363

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

73
# Symbol AA change Variation ID SNP ID
1 MT-ND1 p.Met31Thr VAR_004749 rs201212638
2 MT-ND4 p.Thr109Ala VAR_004759 rs199476113
3 MT-ND5 p.Glu145Gly VAR_035425 rs267606894
4 MT-ND5 p.Ala236Thr VAR_035427 rs267606898
5 MT-ND5 p.Met237Leu VAR_035428 rs267606895
6 MT-ND5 p.Asp393Asn VAR_035430 rs267606897
7 MT-ND6 p.Ala74Val VAR_014397 rs199476107

Expression for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Search GEO for disease gene expression data for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes.

Pathways for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

GO Terms for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Cellular components related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.93 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
2 mitochondrial membrane GO:0031966 9.65 MT-ND6 MT-ND4 MT-ND1 MT-CO1
3 mitochondrial respiratory chain complex I GO:0005747 9.56 MT-ND6 MT-ND5 MT-ND4 MT-ND1
4 respirasome GO:0070469 9.02 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1

Biological processes related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial respiratory chain complex I assembly GO:0032981 9.92 MT-ND6 MT-ND5 MT-ND4 MT-ND1
2 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.86 MT-ND6 MT-ND5 MT-ND4 MT-ND1
3 aerobic respiration GO:0009060 9.85 MT-CO1 MT-ND1 MT-ND4 MT-ND5 MT-ND6
4 translation GO:0006412 9.8 MT-TS1 MT-TQ MT-TL1 MT-TH MT-TF
5 proton motive force-driven mitochondrial ATP synthesis GO:0042776 9.65 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
6 ATP synthesis coupled electron transport GO:0042773 9.37 MT-ND5 MT-ND4
7 electron transport coupled proton transport GO:0015990 9.1 MT-ND5 MT-ND4 MT-CO1

Molecular functions related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase activity GO:0003954 9.63 MT-ND5 MT-ND4 MT-ND1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.56 MT-ND6 MT-ND5 MT-ND4 MT-ND1
3 triplet codon-amino acid adaptor activity GO:0030533 9.02 MT-TS1 MT-TQ MT-TL1 MT-TH MT-TF

Sources for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
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44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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