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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/01/25 09:53:21」(JST)

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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. 若年性ミオクローヌスてんかん juvenile myoclonic epilepsy
3. ミオクローヌスの治療 treatment of myoclonus
4. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus
5. 遺伝性運動失調の概要 overview of the hereditary ataxias

English Journal

Screening of common point-mutations and discovery of new T14727C change in mitochondrial genome of Vietnamese encephalomyopathy patients.

Truong HT1, Nguyen VA1, Nguyen LV2, Pham VA3, Phan TN1.
Mitochondrial DNA.Mitochondrial DNA.2016 Jan;27(1):441-8. doi: 10.3109/19401736.2014.900665. Epub 2014 Apr 8.
Vietnamese patients (106) tentatively diagnosed with encephalomyopathy were screened for the presence of 15 common point mutations in mitochondria using PCR-RFLP. The screened mutations include A3243G, T3271C and T3291C for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELA
PMID 24708131

Oxidative stress in inherited mitochondrial diseases.

Hayashi G1, Cortopassi G2.
Free radical biology & medicine.Free Radic Biol Med.2015 Nov;88(Pt A):10-7. doi: 10.1016/j.freeradbiomed.2015.05.039. Epub 2015 Jun 12.
Mitochondria are a source of reactive oxygen species (ROS). Mitochondrial diseases are the result of inherited defects in mitochondrially expressed genes. One potential pathomechanism for mitochondrial disease is oxidative stress. Oxidative stress can occur as the result of increased ROS production
PMID 26073122

Japanese Journal

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	「赤色ぼろ線維を伴うミオクローヌスてんかん」「myoclonic epilepsy and ragged red fibers」「myoclonic epilepsy with ragged-red fibers」「MERRF症候群」「マーフ症候群」
関連記事	「MERRF」「syndrome」

「赤色ぼろ線維を伴うミオクローヌスてんかん」

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]