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MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease. It is extremely rare, with an estimated prevalence of 1/400,000 in Northern Europe, and has varying degrees of expressivity owing to heteroplasmy.^[1]

Presentation

It involves the following characteristics:

progressive myoclonic epilepsy
"Ragged Red Fibers" - clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "Ragged Red Fibers" when muscle is stained with modified Gömöri trichrome stain
short stature
hearing loss
lactic acidosis
exercise intolerance
poor night vision

Causes

The MERRF syndrome is caused by a maternally-inherited mutation at position 8344 in the mitochondrial genome in over 80% of cases. This point mutation disrupts the mitochondrial gene for tRNA-Lys and so disrupts synthesis of proteins essential for oxidative phosphorylation.

Many genes are involved.^[2] These include:

MT-TK^[3]
MT-TL1
MT-TH^[4]
MT-TS1^[5]
MT-TS2
MT-TF^[6]

Treatment

Like many mitochondrial diseases, there is no cure for MERRF and treatment is primarily symptomatic. High doses of Coenzyme Q10 and L-Carnitine have been tried with little success as therapies in hopes of improving mitochondrial function.^[7]

References

^ Gene Reviews: MERRF
^ Online 'Mendelian Inheritance in Man' (OMIM) MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF -545000
^ Zeviani M, Muntoni F, Savarese N, et al. (1993). "A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene". Eur. J. Hum. Genet. 1 (1): 80–7. PMID 8069654.
^ Melone MA, Tessa A, Petrini S, et al. (February 2004). "Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype". Arch. Neurol. 61 (2): 269–72. doi:10.1001/archneur.61.2.269. PMID 14967777.
^ Nakamura M, Nakano S, Goto Y, et al. (September 1995). "A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome". Biochem. Biophys. Res. Commun. 214 (1): 86–93. doi:10.1006/bbrc.1995.2260. PMID 7669057.
^ Mancuso M, Filosto M, Mootha VK, et al. (June 2004). "A novel mitochondrial tRNAPhe mutation causes MERRF syndrome". Neurology 62 (11): 2119–21. doi:10.1212/01.wnl.0000127608.48406.f1. PMID 15184630.
^ Gene reviews: MERRF: Management of patients

External links

MERRF Syndrome at the US National Library of Medicine Medical Subject Headings (MeSH)
-214630359 at GPnotebook
merrf at NIH/UW GeneTests

UpToDate Contents

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1. ミトコンドリアミオパシー：臨床的特徴および診断 mitochondrial myopathies clinical features and diagnosis
2. 遺伝性運動失調の概要 overview of the hereditary ataxias
3. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus
4. 単一遺伝子性疾患の非メンデル遺伝のパターン non mendelian inheritance patterns of monogenic diseases
5. 成人における小脳性運動失調の概要 overview of cerebellar ataxia in adults

English Journal

Three families with 'de novo' m.3243A > G mutation.

de Laat P1, Janssen MC2, Alston CL3, Taylor RW3, Rodenburg RJ1, Smeitink JA1.
BBA clinical.BBA Clin.2016 Apr 29;6:19-24. doi: 10.1016/j.bbacli.2016.04.007. eCollection 2016.
The m.3243A > G mutation is the most prevalent, disease-causing mitochondrial DNA (mtDNA) mutation. In a national cohort study of 48 families harbouring the m.3243A > G mutation, we identified three families in which the mutation appeared to occur sporadically within these families. In thi
PMID 27331024

Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.

Luigetti M1, Sauchelli D1, Primiano G1, Cuccagna C1, Bernardo D1, Lo Monaco M1, Servidei S1.
European journal of neurology.Eur J Neurol.2016 Jun;23(6):1020-7. doi: 10.1111/ene.12954. Epub 2016 Jan 29.
BACKGROUND AND PURPOSE: Peripheral neuropathy in mitochondrial diseases (MDs) may vary from a subclinical finding in a multisystem syndrome to a severe, even isolated, manifestation in some patients.METHODS: To investigate the involvement of the peripheral nervous system in MDs extensive electrophys
PMID 26822221

Disruption of the human COQ5-containing protein complex is associated with diminished coenzyme Q10 levels under two different conditions of mitochondrial energy deficiency.

Yen HC1, Liu YC2, Kan CC2, Wei HJ2, Lee SH2, Wei YH3, Feng YH2, Chen CW2, Huang CC4.
Biochimica et biophysica acta.Biochim Biophys Acta.2016 May 4;1860(9):1864-1876. doi: 10.1016/j.bbagen.2016.05.005. [Epub ahead of print]
BACKGROUND: The Coq protein complex assembled from several Coq proteins is critical for coenzyme Q6 (CoQ6) biosynthesis in yeast. Secondary CoQ10 deficiency is associated with mitochondrial DNA (mtDNA) mutations in patients. We previously demonstrated that carbonyl cyanide-p-trifluoromethoxyphenylhy
PMID 27155576

Japanese Journal

ミトコンドリア遺伝子異常と内耳障害

山岨達也
耳鼻咽喉科臨床 104(8), 533-540, 2011-08-01
… Mitochondrial DNA lesions are closely associated with sensorineural hearing loss in approximately 70% of the three most common mitochondrial disorders: MELAS, MERRF, and CPEO. …
NAID 10029260261

MERRF/MELAS overlap syndrome: A double pathogenic mutation in mitochondrial tRNA genes

Nakamura Masakazu,Yabe Ichiro,Sudo Akira,Hosoki Kana,Yaguchi Hiroaki,Saitoh Shinji,Sasaki Hidenao
Journal of Medical Genetics 47(10), 659-664, 2010-07-07
… Background : Myoclonic epilepsy with ragged-red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial encephalomyopathy. … The m.8356T>C transition in the mitochondrial tRNALys gene is a pathogenic mutations of MERRF. …
NAID 120002722535

MERRF Syndrome Presenting with Multiple Symmetric Lipomatosis in a Japanese Patient

Kobayashi Junpei,Nagao Masahiro,Miyamoto Kazuhito,Matsubara Shiro
Internal Medicine 49(5), 479-482, 2010
… Myoclonic epilepsy with ragged red fibers (MERRF), also called Fukuharas disease, is sometimes accompanied by the rare symptom of multiple symmetric lipomatosis (MSL). … MSL associated with MERRF has been reported mainly in Caucasians; … We report the case of a 59-year-old Japanese woman with MERRF syndrome associated with A→G substitution at nucleotide 8,344 of mtDNA. …
NAID 130000251700

Related Pictures

★リンクテーブル★

リンク元	「ミトコンドリアミオパチー」「ミトコンドリア脳筋症」「赤色ぼろ線維を伴うミオクローヌスてんかん」「赤色ぼろ線維・ミオクローヌスてんかん症候群」「myoclonic epilepsy and ragged red fibers」
拡張検索	「MERRF症候群」

「ミトコンドリアミオパチー」

MERRF syndrome
	Example of "ragged red fibers" in MELAS syndrome.
Classification and external resources
Specialty	neurology
ICD-10	G31.8
ICD-9-CM	277.87
OMIM	545000
DiseasesDB	30794
MeSH	D017243
GeneReviews	MERRF;
	[edit on Wikidata]