ミトコンドリア病は、心臓、骨格筋や神経の機能が低下する難治性疾患であり、有効な治療薬と治療法がなかった。 タウリンがミトコンドリアのタンパク質産生と品質維持に必須であり、その働きが低下することで細胞の損傷が起こり、ミトコンドリア病発 ...

機能性アミノ酸「タウリン」がミトコンドリアにおけるタンパク質の産生に重要であることを、日本の研究グループが明らかにしました。タウリンの機能低下がミトコンドリアのタンパク質産生を激減させ、ミトコンドリアの機能や構造が壊れることで ...

BACKGROUND:Given the etiologic heterogeneity of disease classification using clinical phenomenology, we employed contemporary criteria to classify variants associated with myoclonic epilepsy with ...

Myoclonic epilepsy associated with ragged red fibers (MERRF) is a rare mitochondrial disorder. Diagnostic criteria for MERRF include typical manifestations of the disease: myoclonus, generalized ...

A 48-year-old man presented with a complex phenotype of myoclonus epilepsy with ragged-red fibers (MERRF) syndrome and Kearns-Sayre syndrome (KSS), which included progressive myoclonus epilepsy, ...

We present a rare case of myoclonic epilepsy with ragged red fibres with high level of heteroplasmy presenting with optic neuropathy and a rare phenotype of lipomatosis. Cutaneous lipomas are ...

SINGAPORE – The swelling in her legs persisted for over a week, so Abigail Chua, then 13, went to the doctor and was put through a battery of tests to get to its root cause. After two weeks of scans ...

After two weeks of scans and tests, she was diagnosed with myoclonic epilepsy with ragged-red fibres (MERRF) syndrome, a rare genetic disorder that primarily affects the nervous system and muscles.

With interest we read the article by Felczak et al. about the clinical and ultrastructural muscle biopsy findings in a 30 years old female with putative MERRF syndrome due to the variant m.8344A>G ...

If myoclonic epilepsy with ragged red fibers (MERRF) syndrome is caused by at least one of four point mutations in mitochondrial DNA, then curing the disease should be as easy as giving new ...