MCID: MYC072
MIFTS: 45

Myoclonic Epilepsy Associated with Ragged-Red Fibers

Categories: Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for Myoclonic Epilepsy Associated with Ragged-Red Fibers

MalaCards integrated aliases for Myoclonic Epilepsy Associated with Ragged-Red Fibers:

Name: Myoclonic Epilepsy Associated with Ragged-Red Fibers 57 25
Merrf Syndrome 57 12 53 25 44 15 73
Merrf 57 24 53 25 59 55
Myoclonus with Epilepsy with Ragged Red Fibers 29 6 40
Fukuhara Syndrome 12 53 59
Myoclonic Epilepsy Associated with Ragged Red Fibers 24 53
Myoencephalopathy Ragged-Red Fiber Disease 53 25
Myoclonus Epilepsy Associated with Ragged-Red Fibres 59
Myoclonus with Epilepsy and with Ragged Red Fibers 12
Myoclonic Epilepsy and Ragged-Red Fiber Disease 37
Myoclonic Epilepsy with Ragged Red Fibers 53
Myoclonic Epilepsy with Ragged-Red Fibers 25
Myoclonus Epilepsy and Ragged Red Fibers 12
Myoclonic Epilepsy - Ragged Red Fibers 12
Fukuhara Disease 25

Characteristics:

Orphanet epidemiological data:

59
merrf
Inheritance: Mitochondrial inheritance; Age of onset: Adult,Childhood;

OMIM:

57
Inheritance:
mitochondrial.


HPO:

32
myoclonic epilepsy associated with ragged-red fibers:
Inheritance mitochondrial inheritance


GeneReviews:

24
Penetrance See genotype-phenotype correlations...

Classifications:



External Ids:

OMIM 57 545000
Disease Ontology 12 DOID:310
ICD10 33 E88.42
MeSH 44 D017243
NCIt 50 C84889
Orphanet 59 ORPHA551
ICD10 via Orphanet 34 G71.3
MESH via Orphanet 45 D017243
UMLS via Orphanet 74 C0162672
MedGen 42 C0162672
KEGG 37 H01356
UMLS 73 C0162672

Summaries for Myoclonic Epilepsy Associated with Ragged-Red Fibers

NIH Rare Diseases : 53 Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF). In over 80% of cases, MERRF is caused by mutations in the mitochondrial gene called MT-TK. Several other mitochondrial genes have also been reported to cause MERRF, but many of the individuals with mutations in these other genes have additional signs and symptoms.Seizures associated with MERRF are generally treated with conventional anticonvulsant therapy.  Coenzyme Q10 and L-carnitine are often used with the hope of improving mitochondrial function.

MalaCards based summary : Myoclonic Epilepsy Associated with Ragged-Red Fibers, also known as merrf syndrome, is related to mitochondrial encephalomyopathy and encephalomyopathy. An important gene associated with Myoclonic Epilepsy Associated with Ragged-Red Fibers is MT-TK (Mitochondrially Encoded TRNA Lysine), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Oxidative phosphorylation. The drugs Cysteamine and Ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are ataxia and sensorineural hearing impairment

Genetics Home Reference : 25 Myoclonic epilepsy with ragged-red fibers (MERRF) is a disorder that affects many parts of the body, particularly the muscles and nervous system. In most cases, the signs and symptoms of this disorder appear during childhood or adolescence. The features of MERRF vary widely among affected individuals, even among members of the same family.

Wikipedia : 76 MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is... more...

Description from OMIM: 545000
GeneReviews: NBK1520

Related Diseases for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Diseases related to Myoclonic Epilepsy Associated with Ragged-Red Fibers via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)
# Related Disease Score Top Affiliating Genes
1 mitochondrial encephalomyopathy 30.1 MT-ND4 MT-ND5 MT-TK MT-TL1
2 encephalomyopathy 30.1 MT-ND4 MT-ND5
3 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 28.9 DARS2 MT-ND4 MT-ND5 MT-TF MT-TH MT-TK
4 diabetes and deafness, maternally inherited 10.8 MT-TK MT-TL1
5 hereditary hearing loss and deafness 10.6 MT-RNR1 MT-TS1
6 mitochondrial non-syndromic sensorineural deafness 10.5 MT-RNR1 MT-TH MT-TS1
7 diphyllobothriasis 10.5 MT-ND5 MT-TL1 MT-TS2
8 early myoclonic encephalopathy 10.4 COX5A MT-ND5 MT-TK
9 epilepsy 10.3
10 maternally-inherited progressive external ophthalmoplegia 10.3 MT-TL1 MT-TS1 TWNK
11 lactic acidosis 10.2
12 myopathy, lactic acidosis, and sideroblastic anemia 10.2 MT-ND4 MT-TK
13 mitochondrial metabolism disease 10.1 MT-ND5 MT-TK
14 leber optic atrophy 10.0 MT-ND4 MT-ND5
15 chronic progressive external ophthalmoplegia 10.0 COX5A MT-TI MT-TK TWNK
16 deafness, aminoglycoside-induced 10.0 MT-ND4 MT-RNR1 MT-TS1
17 diabetic polyneuropathy 9.9 SOD2 TWNK
18 mitochondrial dna-associated leigh syndrome and narp 9.7 MT-ND4 MT-ND5 MT-TI MT-TK MT-TL1
19 leber hereditary optic neuropathy 9.6 MT-ND4 MT-ND5 SOD2
20 deafness, nonsyndromic sensorineural, mitochondrial 9.5 MT-ND4 MT-ND5 MT-RNR1 MT-TH MT-TS1
21 mitochondrial myopathy 9.4 COX5A MT-ND4 MT-ND5 MT-TL1 SDHB
22 3-methylglutaconic aciduria, type v 9.4 DARS2 MT-ND4 MT-TK TWNK
23 myopathy 9.1 MT-ND4 MT-ND5 MT-TP MT-TQ TWNK
24 kearns-sayre syndrome 9.1 COX5A MT-ND4 MT-ND5 MT-TK MT-TL1 TWNK
25 leigh syndrome 8.6 COX5A CPOX MT-ND4 MT-ND5 MT-TI MT-TK
26 mitochondrial disorders 6.9 COX5A CPOX MT-ND4 MT-ND5 MT-TF MT-TH

Graphical network of the top 20 diseases related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:



Diseases related to Myoclonic Epilepsy Associated with Ragged-Red Fibers

Symptoms & Phenotypes for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Symptoms via clinical synopsis from OMIM:

57
Neuro:
myoclonus epilepsy. ataxia. spasticity.

Ears:
sensorineural hearing loss.

Muscle:
muscle weakness. myopathy.

Lab:
ragged-red muscle fibers. serum pyruvate or pyruvate and lactate elevated. defect in translation of all mtdna-encoded genes.


Clinical features from OMIM:

545000

Human phenotypes related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
2 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 optic atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0000648
4 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
5 cognitive impairment 59 32 frequent (33%) Frequent (79-30%) HP:0100543
6 myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003198
7 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
8 abnormality of movement 59 32 hallmark (90%) Very frequent (99-80%) HP:0100022
9 generalized myoclonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002123
10 multiple lipomas 59 32 frequent (33%) Frequent (79-30%) HP:0001012
11 ragged-red muscle fibers 59 32 hallmark (90%) Very frequent (99-80%) HP:0003200
12 seizures 32 HP:0001250
13 spasticity 32 HP:0001257
14 muscle weakness 32 HP:0001324
15 myoclonus 32 HP:0001336
16 increased serum lactate 32 HP:0002151
17 increased serum pyruvate 32 HP:0003542

Drugs & Therapeutics for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Drugs for Myoclonic Epilepsy Associated with Ragged-Red Fibers (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
2 Ubiquinone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
2 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
3 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Cochrane evidence based reviews: merrf syndrome

Genetic Tests for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Genetic tests related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

# Genetic test Affiliating Genes
1 Myoclonus with Epilepsy with Ragged Red Fibers 29 MT-TF MT-TI MT-TK MT-TL1 MT-TP

Anatomical Context for Myoclonic Epilepsy Associated with Ragged-Red Fibers

MalaCards organs/tissues related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

41
Eye, Skin

Publications for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Articles related to Myoclonic Epilepsy Associated with Ragged-Red Fibers:

(show all 31)
# Title Authors Year
1
Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome. ( 27025901 )
2016
2
Lactose-free diet inducing aseptic pancreatitis and myoclonic jerks in late-onset, putative MERRF syndrome. ( 26810726 )
2016
3
Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery. ( 24199594 )
2013
4
Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome. ( 20411357 )
2010
5
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. ( 20190488 )
2010
6
Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome). ( 20976001 )
2010
7
Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report. ( 18412280 )
2008
8
MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. ( 17275787 )
2007
9
Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction. ( 16645216 )
2006
10
Antimyoclonic effect of levetiracetam in MERRF syndrome. ( 16414077 )
2006
11
Anesthetic management of a patient with MERRF syndrome. ( 15649170 )
2005
12
High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome. ( 15965049 )
2005
13
Upregulation of matrix metalloproteinase 1 and disruption of mitochondrial network in skin fibroblasts of patients with MERRF syndrome. ( 15965045 )
2005
14
Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. ( 15317755 )
2004
15
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. ( 15184630 )
2004
16
HIV disease progression and limited antiretroviral treatment options for a HIV-1 infected individual with myoclonic epilepsy associated with ragged red fibers. ( 16120382 )
2004
17
Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome. ( 12876264 )
2003
18
Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in myoclonus epilepsy and ragged-red fibers (MERRF) syndrome by a multiplex molecular beacon based real-time fluorescence PCR. ( 11160915 )
2001
19
Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates. ( 9315896 )
1997
20
MERRF syndrome with overwhelming lactic acidosis. ( 8652018 )
1996
21
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. ( 8676159 )
1996
22
Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome. ( 8622733 )
1996
23
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas. ( 7603509 )
1995
24
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. ( 7647790 )
1995
25
Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome. ( 7606176 )
1995
26
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. ( 8264702 )
1994
27
Multiple symmetric lipomas with high levels of mtDNA with the tRNA(Lys) A-->G(8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. ( 8447321 )
1993
28
Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome. ( 1300181 )
1992
29
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. ( 1463006 )
1992
30
Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome. ( 1905454 )
1991
31
A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome. ( 1910259 )
1991

Variations for Myoclonic Epilepsy Associated with Ragged-Red Fibers

ClinVar genetic disease variations for Myoclonic Epilepsy Associated with Ragged-Red Fibers:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TP m.15967G> A single nucleotide variant Pathogenic rs199474701 GRCh37 Chromosome MT, 15967: 15967
2 MT-TP m.15967G> A single nucleotide variant Pathogenic rs199474701 GRCh38 Chromosome MT, 15967: 15967
3 MT-TF m.611G> A single nucleotide variant Pathogenic rs118203886 GRCh37 Chromosome MT, 611: 611
4 MT-TF m.611G> A single nucleotide variant Pathogenic rs118203886 GRCh38 Chromosome MT, 611: 611
5 MT-TK m.8356T> C single nucleotide variant Pathogenic rs118192099 GRCh37 Chromosome MT, 8356: 8356
6 MT-TK m.8356T> C single nucleotide variant Pathogenic rs118192099 GRCh38 Chromosome MT, 8356: 8356
7 MT-TK m.8363G> A single nucleotide variant Pathogenic rs118192100 GRCh37 Chromosome MT, 8363: 8363
8 MT-TK m.8363G> A single nucleotide variant Pathogenic rs118192100 GRCh38 Chromosome MT, 8363: 8363
9 MT-TK m.8361G> A single nucleotide variant Pathogenic rs118192104 GRCh37 Chromosome MT, 8361: 8361
10 MT-TK m.8361G> A single nucleotide variant Pathogenic rs118192104 GRCh38 Chromosome MT, 8361: 8361
11 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
12 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh38 Chromosome MT, 3243: 3243
13 MT-TL1 m.3256C> T single nucleotide variant Pathogenic rs199474659 GRCh37 Chromosome MT, 3256: 3256
14 MT-TL1 m.3256C> T single nucleotide variant Pathogenic rs199474659 GRCh38 Chromosome MT, 3256: 3256
15 MT-TI m.4284G> A single nucleotide variant Pathogenic rs121434468 GRCh37 Chromosome MT, 4284: 4284
16 MT-TI m.4284G> A single nucleotide variant Pathogenic rs121434468 GRCh38 Chromosome MT, 4284: 4284
17 MT-ND5 m.13042G> A single nucleotide variant Pathogenic rs267606898 GRCh37 Chromosome MT, 13042: 13042
18 MT-ND5 m.13042G> A single nucleotide variant Pathogenic rs267606898 GRCh38 Chromosome MT, 13042: 13042
19 MT-TI NC_012920.1: m.4279A> G single nucleotide variant Pathogenic rs797044543 GRCh37 Chromosome MT, 4279: 4279
20 MT-TI NC_012920.1: m.4279A> G single nucleotide variant Pathogenic rs797044543 GRCh38 Chromosome MT, 4279: 4279

Expression for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Search GEO for disease gene expression data for Myoclonic Epilepsy Associated with Ragged-Red Fibers.

Pathways for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Pathways related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to KEGG:

37
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970
2 Oxidative phosphorylation hsa00190

Pathways related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.61 CARS2 DARS2 MT-TF MT-TH MT-TI MT-TK

GO Terms for Myoclonic Epilepsy Associated with Ragged-Red Fibers

Cellular components related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.61 CARS2 COX5A CPOX DARS2 MT-ND4 MT-ND5
2 mitochondrial matrix GO:0005759 9.46 CARS2 DARS2 SOD2 TWNK
3 mitochondrial inner membrane GO:0005743 9.1 COX5A CPOX MT-ND4 MT-ND5 SDHB SOD2

Biological processes related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.35 CPOX MT-ND4 MT-ND5 SDHB SOD2
2 aerobic respiration GO:0009060 9.16 MT-ND4 SDHB
3 ATP synthesis coupled electron transport GO:0042773 8.62 MT-ND4 MT-ND5

Molecular functions related to Myoclonic Epilepsy Associated with Ragged-Red Fibers according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.55 CPOX MT-ND4 MT-ND5 SDHB SOD2
2 NADH dehydrogenase activity GO:0003954 8.96 MT-ND4 MT-ND5
3 ubiquinone binding GO:0048039 8.62 MT-ND4 SDHB

Sources for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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7 CNVD
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10 dbSNP
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17 ExPASy
19 FMA
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29 GTR
30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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