MERRF
MCID: MRR001
MIFTS: 54

Merrf Syndrome (MERRF) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Muscle diseases categories

Summaries for Merrf Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Merrf is a disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia.  symptoms usually first appear in childhood after normal early development but symptoms can also first occur in adulthood.  symptoms vary widely from individual to individual and the course may be slowly progressive or rapidly downhill.  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) .  the condition is caused by mutations - that can be detected with genetic testing in 90% of affected individuals - in the mitochondrial gene called mt-tk.  the seizure disorder is treated with conventional anticonvulsant therapy.  coenzyme q10 and l-carnitine are often used in hopes of improving mitochondrial function. last updated: 6/17/2008

MalaCards: Merrf Syndrome, also known as MERRF, is related to lactic acidosis and melas syndrome, and has symptoms including xanthomas/lipomas, movement disorder and abnormal emg/electromyogram/electropmyography. An important gene associated with Merrf Syndrome is MT-TK (mitochondrially encoded tRNA lysine), and among its related pathways is tRNA Aminoacylation. The compounds rofecoxib and meloxicam have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and skin.

Genetics Home Reference:22 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:66 MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease. It is... more...

Description from OMIM:48 545000

GeneReviews summary for merrf

Aliases & Classifications for Merrf Syndrome

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46Novoseek, 50Orphanet, 48OMIM, 63UMLS, 41NCIt, 36MeSH, 59SNOMED-CT, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
merrf syndrome:
Inheritance: Mitochondrial inheritance; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

merrf syndrome 9 44 22 50 48 63
merrf 20 44 21 22 46
fukuhara syndrome 9 44 50
myoclonic epilepsy associated with ragged-red fibers 44 22
myoclonus with epilepsy with ragged red fibers 44 23
myoencephalopathy ragged-red fiber disease 44 22
myoclonic epilepsy associated with ragged red fibers 20
myoclonus epilepsy associated with ragged-red fibers 50
myoclonus with epilepsy and with ragged red fibers 9
myoclonic epilepsy with ragged-red fibers 22
myoclonus epilepsy and ragged red fibers 9
myoclonic epilepsy - ragged red fibers 9
fukuhara disease 22


External Ids:

Disease Ontology9 DOID:310
NCIt41 C84889
OMIM48 545000
MESH via Orphanet37 D017243
SNOMED-CT via Orphanet60 230426003, 68448003, 57254004
ICD10 via Orphanet27 G71.3
UMLS via Orphanet64 C0162672

Related Diseases for Merrf Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Merrf Syndrome:



Diseases related to merrf syndrome

Symptoms for Merrf Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

545000

Clinical features from OMIM:

545000

Symptoms:

50 (show all 11)
  • xanthomas/lipomas
  • movement disorder
  • abnormal emg/electromyogram/electropmyography
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • myopathy
  • short stature/dwarfism/nanism
  • sensorineural deafness/hearing loss
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • ataxia/incoordination/trouble of the equilibrium
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • seizures/epilepsy/absences/spasms/status epilepticus

Drugs & Therapeutics for Merrf Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Merrf Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Merrf Syndrome:

id Genetic test Affiliating Genes
1 Merrf21 MT-TK
2 Myoclonus with Epilepsy with Ragged Red Fibers23

Anatomical Context for Merrf Syndrome

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34MalaCards
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MalaCards organs/tissues related to Merrf Syndrome:

34
Testes, Eye, Skin

Animal Models for Merrf Syndrome or affiliated genes

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Publications for Merrf Syndrome

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53PubMed
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Articles related to Merrf Syndrome:

(show all 25)
idTitleAuthorsYear
1
Treatment of human cells derived from MERRF syndrome by peptide-mediated mitochondrial delivery. (24199594)
2013
2
Mitochondrial DNA mutation-elicited oxidative stress, oxidative damage, and altered gene expression in cultured cells of patients with MERRF syndrome. (20411357)
2010
3
MERRF syndrome presenting with multiple symmetric lipomatosis in a Japanese patient. (20190488)
2010
4
Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report. (18412280)
2008
5
MERRF syndrome without ragged-red fibers: the need for molecular diagnosis. (17275787)
2007
6
Antimyoclonic effect of levetiracetam in MERRF syndrome. (16414077)
2006
7
High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome. (15965049)
2005
8
Upregulation of matrix metalloproteinase 1 and disruption of mitochondrial network in skin fibroblasts of patients with MERRF syndrome. (15965045)
2005
9
Anesthetic management of a patient with MERRF syndrome. (15649170)
2005
10
Nuclear DNA-encoded tRNAs targeted into mitochondria can rescue a mitochondrial DNA mutation associated with the MERRF syndrome in cultured human cells. (15317755)
2004
11
A novel mitochondrial tRNAPhe mutation causes MERRF syndrome. (15184630)
2004
12
Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome. (12876264)
2003
13
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
14
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
15
MERRF syndrome with overwhelming lactic acidosis. (8652018)
1996
16
Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome. (8622733)
1996
17
The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome. (8676159)
1996
18
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. (7647790)
1995
19
Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome. (7606176)
1995
20
Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas. (7603509)
1995
21
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
22
Analysis of the tissue distribution and inheritance of heteroplasmic mitochondrial DNA point mutation by denaturing gradient gel electrophoresis in MERRF syndrome. (1300181)
1992
23
Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. (1463006)
1992
24
Functional respiratory chain studies in mitochondrial cytopathies. Support for mitochondrial DNA heteroplasmy in myoclonus epilepsy and ragged red fibers (MERRF) syndrome. (1905454)
1991
25
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 Merrf Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Merrf Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1MT-TFm.611G> Asingle nucleotide variantPathogenicrs118203886GRCh37Chr MT, 611: 611
2MT-TKm.8344A> Gsingle nucleotide variantPathogenicrs118192098GRCh37Chr MT, 8344: 8344
3MT-TKm.8356T> Csingle nucleotide variantPathogenicrs118192099GRCh37Chr MT, 8356: 8356
4MT-TKm.8361G> Asingle nucleotide variantPathogenicrs118192104GRCh37Chr MT, 8361: 8361
5MT-TL1m.3256C> Tsingle nucleotide variantPathogenicrs199474659GRCh37Chr MT, 3256: 3256
6MT-ND5m.13042G> Asingle nucleotide variantPathogenicrs267606898GRCh37Chr MT, 13042: 13042

Expression for genes affiliated with Merrf Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Merrf Syndrome

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Pathways for genes affiliated with Merrf Syndrome

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51PathCards, 56Reactome, 31KEGG
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Pathways related to Merrf Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.1MT-TK, MT-TQ, MT-TS2, MT-TP, MT-TF, MT-TH

Compounds for genes affiliated with Merrf Syndrome

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46Novoseek, 52PharmGKB, 30IUPHAR, 12DrugBank, 25HMDB, 62Tocris Bioscience
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Compounds related to Merrf Syndrome according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1rofecoxib46 52 30 1212.8MT-CO2, CPOX
2meloxicam46 1210.7MMP1, CPOX
3diclofenac46 30 52 1212.6MMP1, CPOX
4ibuprofen46 30 52 25 1213.5CPOX, MMP1
5sodium azide469.3CAT, MMP1
6trolox469.3MMP1, CAT
7salicylic acid46 3010.2CAT, CPOX
8celecoxib46 62 30 52 25 1214.2CPOX, MMP1
9betacarotene469.2CAT, MMP1
10peroxynitrite469.1CAT, CPOX
11prostaglandin469.1MT-CO2, MMP1, CPOX
12citrate469.0CPOX, MT-CO2, CAT
13copper46 2510.0CAT, MT-CO2, CPOX
14pge2468.9MT-CO2, MMP1, CPOX
15atp46 309.8CPOX, LONP1, MT-CO2, MT-ND5
16nadh46 25 1210.8CAT, MT-ND5, MT-CO2, CPOX
17indomethacin46 30 62 1211.8CPOX, MMP1, CAT
18pdtc468.7CAT, MMP1
19lactate468.4CPOX, MMP1, MT-CO2, CAT
20oxygen46 259.4CAT, MT-CO2, LONP1, CPOX

GO Terms for genes affiliated with Merrf Syndrome

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17Gene Ontology
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Cellular components related to Merrf Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial intermembrane spaceGO:0057589.1CAT, CPOX

Products for genes affiliated with Merrf Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Merrf Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet