WordNet

any pathology of the muscles that is not attributable to nerve dysfunction

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/07/01 18:47:51」(JST)

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Mitochondrial myopathy is a type of myopathy associated with mitochondrial disease. On biopsy, the muscle tissue of patients with this disease usually demonstrate "ragged red" muscle fibers. These ragged-red fibers contain mild accumulations of glycogen and neutral lipids, and may show an increased reactivity for succinate dehydrogenase and a decreased reactivity for cytochrome c oxidase. Inheritance is maternal (non-Mendelian extranuclear). There are several subcategories of mitochondrial myopathies.

Treatment

Although no cure currently exists, there is hope in treatment for this class of hereditary diseases with the use of an embryotic mitochondrial transplant.^[1]

Signs and symptoms

Signs and symptoms include:

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS)
- Varying degrees of cognitive impairment and dementia
- Lactic acidosis
- Strokes
- Transient ischemic attacks
- Hearing loss
- Weight loss

Myoclonic epilepsy and ragged-red fibers (MERRF)
- Progressive myoclonic epilepsy
- Clumps of diseased mitochondria accumulate in muscle fibers and appear as "ragged-red fibers" when muscle is stained with modified Gömöri trichrome stain
- Short stature

Kearns-Sayre syndrome (KSS)
- External ophthalmoplegia
- Cardiac conduction defects
- Sensorineural hearing loss

Chronic progressive external ophthalmoplegia (CPEO)
- Progressive ophthalmoparesis
- Symptomatic overlap with other mitochondrial myopathies

References

^ "Three-parent embryo formed in lab" (WEB). Scientists believe they have made a potential breakthrough in the treatment of serious disease by creating a human embryo with three separate parents. BBC News. 5 February 2008. Retrieved 2008-02-08.

External links

8th Conference of the International Coenzyme Q₁₀ Association

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. ミトコンドリアミオパシー：治療 mitochondrial myopathies treatment
3. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
4. 眼瞼下垂症の概要 overview of ptosis
5. 代謝性ミオパチーへのアプローチ approach to the metabolic myopathies

Japanese Journal

臨床・研究糖尿病を合併した若年発症ミトコンドリア脳筋症・乳酸アシドーシス・脳卒中様発作症候群(MELAS)の剖検例

高瀬裕史,山本昌弘,杉本利嗣
島根医学 : the journal of the Shimane Medical Association 32(3), 137-139, 2012-09-00
NAID 40019452098

Recent advances in p97/VCP/Cdc48 cellular functions

Yamanaka Kunitoshi,Sasagawa Yohei,Ogura Teru,ヤマナカクニトシ,ササガワヨウヘイ,オグラテル,山中邦俊,笹川洋平,小椋光
Biochimica et Biophysica Acta – Molecular Cell Research 1823(1), 130-137, 2012-01-00
… Recently, novel functions, namely autophagy and mitochondrial quality control, for p97 have been uncovered. … p97 was identified as a causative factor for inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) and more recently as a causative factor for amyotrophic lateral sclerosis (ALS). …
NAID 120004141045

Taurine Ameliorates Impaired the Mitochondrial Function and Prevents Stroke-like Episodes in Patients with MELAS

Rikimaru Mitsue,Ohsawa Yutaka,Wolf Alexander M.,Nishimaki Kiyomi,Ichimiya Harumi,Kamimura Naomi,Nishimatsu Shin-ichiro,Ohta Shigeo,Sunada Yoshihide
Internal Medicine 51(24), 3351-3357, 2012
… Objective Post-transcriptional taurine modification at the first anticodon ("wobble") nucleotide is deficient in A3243G-mutant mitochondrial (mt) tRNALeu(UUR) of patients with myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). … We herein examined whether taurine can alleviate mitochondrial dysfunction in patient-derived pathogenic cells and prevent clinical symptoms in MELAS patients. …
NAID 130003308162

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」「parking lot inclusions」「MELAS症候群」「ミトコンドリア筋症」
拡張検索	「mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode syndrome」「mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes」「mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes」
関連記事	「mitochondrial」

「ミトコンドリアミオパチー」

Mitochondrial myopathy
	Simplified structure of a typical mitochondrion
Classification and external resources
ICD-10	G71.3
MeSH	D017240

　　[★]

英: mitochondrial myopathy
関: ミトコンドリア筋症、ミトコンドリアミオパシー

症状

筋力低下、何らかの中枢神経症状、低身長

主要疾患

1. 慢性進行性外眼筋麻痺症候群 CPEO カーンズ・セイヤー症候群 Kearns-Sayre症候群

症状：外眼筋麻痺
病因：mt DNAの欠失。遺伝性・先天性

2. myoclonus eplilepsy associated with ragged-red fibers MELAS メラス

小児期に発症
症状：突然起こる頭痛、嘔吐、痙攣、意識障害、片麻痺、半盲など。脳卒中様症状を繰り返し、次第に荒廃していく疾患
病因：mt DNAのtRNA Leuコード領域の点変異がほとんど。遺伝性。

3. mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes MERRF マーフ

症状：ミオクローヌスてんかん。小脳症状。
症状：知的退行
病因：mt DNAのtRNA Lysコード領域の点変異がほとんど。遺伝性

「parking lot inclusions」

　　[★]

ミトコンドリアミオパシー(mitochondrial myopathy)の筋線維の標本を修正ゴメリトリクロム染色(modified Gomeri trichrome stain)でみると、不整な筋線維とサルコレンマ下にミトコンドリア集積した像を認める。その標本を電子顕微鏡で見るとparking lot inclusionsと呼ばれるparacrystalline inclusionが平行に配置された構造を認める。