MERRF
MCID: MYC072
MIFTS: 46

Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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
SNOMED-CT 68 57254004 68448003
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 myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and mitochondrial encephalomyopathy. An important gene associated with Myoclonic Epilepsy Associated with Ragged-Red Fibers is MT-TL1 (Mitochondrially Encoded TRNA Leucine 1 (UUA/G)), 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, skin and prostate, 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 44)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 31.1 DARS2 MT-ND5 MT-TF MT-TH MT-TL1 MT-TQ
2 mitochondrial encephalomyopathy 30.5 COX5A CPOX MT-ND5 MT-TK MT-TL1
3 leigh syndrome 29.9 COX5A CPOX MT-ND5 MT-TI MT-TK MT-TL1
4 kearns-sayre syndrome 29.5 COX5A MT-ND5 MT-TL1 POLG TFAM TWNK
5 mitochondrial myopathy 29.4 COX5A MT-ND5 MT-TL1 MT-TS1 POLG SDHB
6 myoclonus 10.5
7 myoclonus epilepsy 10.5
8 epilepsy 10.5
9 early myoclonic encephalopathy 10.4
10 lactic acidosis 10.3
11 diarrhea 10.3
12 psoriasis 10.3
13 diabetes and deafness, maternally inherited 10.2 MT-TK MT-TL1
14 lipomatosis 10.2
15 diphyllobothriasis 10.2 MT-ND5 MT-TL1 MT-TS2
16 deafness, aminoglycoside-induced 10.2 MT-RNR1 MT-TS1
17 mitochondrial non-syndromic sensorineural deafness 10.2 MT-RNR1 MT-TH MT-TS1
18 mitochondrial neurogastrointestinal encephalomyopathy 10.1 MT-TK POLG
19 deafness, nonsyndromic sensorineural, mitochondrial 10.1 MT-ND5 MT-RNR1 MT-TH MT-TS1
20 mitochondrial dna depletion syndrome 1 10.1 MT-TK POLG
21 mitochondrial disorders 10.1 COX5A TFAM
22 mitochondrial dna depletion syndrome 10.1 POLG TWNK
23 ataxia neuropathy spectrum 10.1 POLG TWNK
24 lipomatosis, multiple symmetric 10.0
25 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.0 POLG TWNK
26 maternally-inherited progressive external ophthalmoplegia 10.0 MT-TL1 MT-TS1 POLG TWNK
27 mitochondrial dna depletion syndrome 4a 9.9 DARS2 POLG TWNK
28 3-methylglutaconic aciduria, type v 9.9 DARS2 POLG TWNK
29 diabetic polyneuropathy 9.9 POLG TWNK
30 autosomal dominant progressive external ophthalmoplegia 9.9 POLG TFAM TWNK
31 chronic progressive external ophthalmoplegia 9.9 COX5A MT-TI POLG TWNK
32 prostate cancer 9.9
33 cardiomyopathy, infantile histiocytoid 9.9
34 aceruloplasminemia 9.9
35 mood disorder 9.9
36 pancreatitis 9.9
37 neuropathy 9.9
38 sideroblastic anemia 9.9
39 spinocerebellar degeneration 9.9
40 encephalopathy 9.9
41 acquired idiopathic sideroblastic anemia 9.9
42 ocular motility disease 9.9 POLG TWNK
43 muscular disease 9.8 MT-ND5 MT-TL1 MT-TP MT-TQ POLG TWNK
44 mitochondrial metabolism disease 9.7 COX5A MT-ND5 MT-TL1 POLG TFAM TWNK

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 TRNP1

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, Prostate

Publications for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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

(show all 36)
# Title Authors Year
1
Robotic radical prostatectomy in a patient with prostate cancer and MERRF syndrome, a rare mitochondrial disorder affecting muscle fibers. ( 30364532 )
2019
2
MERRF syndrome (Myoclonic Epilepsy with Ragged Red Fibres) presenting with cervicothoracic lipomatosis. ( 30409749 )
2018
3
Madelung lipomatosis presenting as a manifestation of myoclonic epilepsy with ragged red fibers (MERRF) syndrome. ( 30238046 )
2018
4
Generation of two isogenic human induced pluripotent stem cell lines from a 15 year-old female patient with MERRF syndrome and A8344G mutation of mitochondrial DNA. ( 29960149 )
2018
5
Management of epilepsy in MERRF syndrome. ( 28686997 )
2017
6
Impaired ROS Scavenging System in Human Induced Pluripotent Stem Cells Generated from Patients with MERRF Syndrome. ( 27025901 )
2016
7
Lactose-free diet inducing aseptic pancreatitis and myoclonic jerks in late-onset, putative MERRF syndrome. ( 26810726 )
2016
8
Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery. ( 24199594 )
2013
9
Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome. ( 20411357 )
2010
10
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. ( 20190488 )
2010
11
Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome). ( 20976001 )
2010
12
Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report. ( 18412280 )
2008
13
MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. ( 17275787 )
2007
14
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
15
Antimyoclonic effect of levetiracetam in MERRF syndrome. ( 16414077 )
2006
16
Anesthetic management of a patient with MERRF syndrome. ( 15649170 )
2005
17
High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome. ( 15965049 )
2005
18
Upregulation of matrix metalloproteinase 1 and disruption of mitochondrial network in skin fibroblasts of patients with MERRF syndrome. ( 15965045 )
2005
19
Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. ( 15317755 )
2004
20
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. ( 15184630 )
2004
21
HIV disease progression and limited antiretroviral treatment options for a HIV-1 infected individual with myoclonic epilepsy associated with ragged red fibers. ( 16120382 )
2004
22
Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome. ( 12876264 )
2003
23
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
24
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
25
MERRF syndrome with overwhelming lactic acidosis. ( 8652018 )
1996
26
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. ( 8676159 )
1996
27
Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome. ( 8622733 )
1996
28
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas. ( 7603509 )
1995
29
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. ( 7647790 )
1995
30
Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome. ( 7606176 )
1995
31
Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene. ( 8264702 )
1994
32
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
33
Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome. ( 1300181 )
1992
34
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. ( 1463006 )
1992
35
Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome. ( 1905454 )
1991
36
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 24)
# 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.8344A> G single nucleotide variant Conflicting interpretations of pathogenicity rs118192098 GRCh37 Chromosome MT, 8344: 8344
6 MT-TK m.8344A> G single nucleotide variant Conflicting interpretations of pathogenicity rs118192098 GRCh38 Chromosome MT, 8344: 8344
7 MT-TK m.8356T> C single nucleotide variant Pathogenic rs118192099 GRCh37 Chromosome MT, 8356: 8356
8 MT-TK m.8356T> C single nucleotide variant Pathogenic rs118192099 GRCh38 Chromosome MT, 8356: 8356
9 MT-TK m.8363G> A single nucleotide variant Pathogenic rs118192100 GRCh37 Chromosome MT, 8363: 8363
10 MT-TK m.8363G> A single nucleotide variant Pathogenic rs118192100 GRCh38 Chromosome MT, 8363: 8363
11 MT-TK m.8361G> A single nucleotide variant Pathogenic rs118192104 GRCh37 Chromosome MT, 8361: 8361
12 MT-TK m.8361G> A single nucleotide variant Pathogenic rs118192104 GRCh38 Chromosome MT, 8361: 8361
13 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
14 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh38 Chromosome MT, 3243: 3243
15 MT-TL1 m.3256C> T single nucleotide variant Pathogenic rs199474659 GRCh37 Chromosome MT, 3256: 3256
16 MT-TL1 m.3256C> T single nucleotide variant Pathogenic rs199474659 GRCh38 Chromosome MT, 3256: 3256
17 MT-TI m.4284G> A single nucleotide variant Pathogenic rs121434468 GRCh37 Chromosome MT, 4284: 4284
18 MT-TI m.4284G> A single nucleotide variant Pathogenic rs121434468 GRCh38 Chromosome MT, 4284: 4284
19 MT-ND5 m.13042G> A single nucleotide variant Pathogenic rs267606898 GRCh37 Chromosome MT, 13042: 13042
20 MT-ND5 m.13042G> A single nucleotide variant Pathogenic rs267606898 GRCh38 Chromosome MT, 13042: 13042
21 MT-TP; MT-TT m.15923A> G single nucleotide variant Uncertain significance rs193303001 GRCh38 Chromosome MT, 15923: 15923
22 MT-TP; MT-TT m.15923A> G single nucleotide variant Uncertain significance rs193303001 GRCh37 Chromosome MT, 15923: 15923
23 MT-TI NC_012920.1: m.4279A> G single nucleotide variant Pathogenic rs797044543 GRCh37 Chromosome MT, 4279: 4279
24 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 mitochondrial matrix GO:0005759 9.46 CARS2 DARS2 TFAM TWNK
2 mitochondrion GO:0005739 9.28 CARS2 COX5A CPOX DARS2 MT-ND5 POLG
3 mitochondrial nucleoid GO:0042645 9.13 POLG TFAM TWNK

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 tRNA aminoacylation for protein translation GO:0006418 9.16 CARS2 DARS2
2 mitochondrial transcription GO:0006390 8.96 TFAM TWNK
3 mitochondrial DNA replication GO:0006264 8.62 POLG TWNK

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 aminoacyl-tRNA ligase activity GO:0004812 8.62 CARS2 DARS2

Sources for Myoclonic Epilepsy Associated with Ragged-Red Fibers

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