同: RRF

WordNet

of a color at the end of the color spectrum (next to orange); resembling the color of blood or cherries or tomatoes or rubies (同)reddish, ruddy, blood-red, carmine, cerise, cherry, cherry-red, crimson, ruby, ruby-red, scarlet
red color or pigment; the chromatic color resembling the hue of blood (同)redness
worn out from stress or strain; "run ragged"
being or dressed in clothes that are worn or torn; "clothes as ragged as a scarecrows"; "a ragged tramp"
having an irregular outline; "text set with ragged right margins"; "herded the class into a ragged line"
a slender and greatly elongated substance capable of being spun into yarn (同)fibre
a leatherlike material made by compressing layers of paper or cloth (同)fibre, vulcanized fiber
any of several elongated, threadlike cells (especially a muscle fiber or a nerve fiber) (同)fibre
the syllable naming the second (supertonic) note of any major scale in solmization (同)ray
a tributary of the Mississippi River that flows eastward from Texas along the southern boundary of Oklahoma and through Louisiana (同)Red River

PrepTutorEJDIC

〈U〉〈C〉『赤,』『赤色;』赤い絵の具(染料) / 〈U〉赤い服 / 〈C〉《しばしば『R-』》《話》《時に軽べつして》アカ,共産主義者;過激論(主義)者 / 〈U〉《通例the ~》(会計の)赤字,負債 / 『赤い』,赤色の / (顔・目などが)赤くなった;血に染った / 赤い服を着た;赤毛の / 《しばしば『R-』》《話》《軽べつして》共産主義の;過激な
(依服などが)『ぼろぼろの』,すり切れた;(人が)『ぼろ[服]を着た』 / 『ごつごつした』,でこぼこの,ぎざぎざの / (仕事・作品など)できが不ぞろいの / (毛・草などが)ぼうぼうの,手入れをしていない / (声などが)不ぞろいの
レ(全音階の第2音)

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/31 22:05:44」(JST)

wiki en

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

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

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. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies
4. 小児における外眼筋に影響するミオパチー myopathies affecting the extraocular muscles in children
5. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus

English Journal

Myoclonus in mitochondrial disorders.

Mancuso M1, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G.
Movement disorders : official journal of the Movement Disorder Society.Mov Disord.2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7.
Myoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseases is not
PMID 24510442

Perspectives of drug-based neuroprotection targeting mitochondria.

Procaccio V1, Bris C1, Chao de la Barca JM1, Oca F1, Chevrollier A1, Amati-Bonneau P1, Bonneau D1, Reynier P2.
Revue neurologique.Rev Neurol (Paris).2014 May 1. pii: S0035-3787(14)00811-X. doi: 10.1016/j.neurol.2014.03.005. [Epub ahead of print]
Mitochondrial dysfunction has been reported in most neurodegenerative diseases. These anomalies include bioenergetic defect, respiratory chain-induced oxidative stress, defects of mitochondrial dynamics, increase sensitivity to apoptosis, and accumulation of damaged mitochondria with instable mitoch
PMID 24792485

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene.

Peverelli L1, Gold CA, Naini AB, Tanji K, Akman HO, Hirano M, Dimauro S.
Muscle & nerve.Muscle Nerve.2014 Apr 8. doi: 10.1002/mus.24262. [Epub ahead of print]
Introduction. A 61-year-old woman with a five-year history of progressive muscle weakness and atrophy had a muscle biopsy characterized by a combination of dystrophic features (necrotic fibers and endomysial fibrosis) and mitochondrial alterations [ragged-red cytochrome c oxidase (COX)-negative fibe
PMID 24711008

Japanese Journal

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). …
NAID 130000251700

Mitochondrial Encephalomyopathy Associated with Diabetes Mellitus, Cataract, and Corpus Callosum Atrophy

Oishi Minoru,Miki Kenji,Morita Akihiko,Fujioka Kazumi,Aoki Shigeki,Nishino Ichizo,Nonaka Ikuya,Goto Yu-ichi,Mizutani Tomohiko
Internal Medicine 47(5), 441-444, 2008
… Muscle biopsy showed ragged-red fibers, cytochrome c oxidase (COX)-positive fibers, and COX-negative fibers. …
NAID 130000079708

Related Pictures

★リンクテーブル★

リンク元	「ragged red fibers」
拡張検索	「myoclonic epilepsy with ragged-red fibers」
関連記事	「red」

「ragged red fibers」

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;