期刊
PHARMACOLOGICAL RESEARCH
卷 180, 期 -, 页码 -出版社
ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.phrs.2022.106228
关键词
M; 3243A > MELAS; MTTL1; POLG; Stroke; Stroke-like episodes; Stroke-like lesion
资金
- GENOMIT [GUP09004, GSP16001, RF-2016-02361495]
- GENOMIT [GUP09004, GSP16001, RF-2016-02361495]
MELAS is a rare inherited mitochondrial disease associated with severe multiorgan involvement and stress-induced metabolic derangements; currently, there are no etiopathogenetic therapies for stroke-like episodes, with treatment mainly relying on anti-epileptic drugs and supportive therapy.
A mitochondrial stroke-like event is an evolving subacute neurological syndrome linked to seizure activity and focal metabolic brain derangement in a genetically determined mitochondrial disorder. The acronym MELAS (mitochondrial encephalopathy associated with lactic acidosis and stroke-like lesions) identifies subjects with molecular, biochemical and/or histological evidence of mitochondrial disorder who experience stroke-like lesions. MELAS is a rare inherited mitochondrial disease linked to severe multiorgan involvement and stressinduced episodes of metabolic decompensation and lactic acidosis. Unfortunately, there are no etiopathogenetic therapies for stroke-like episodes to date, and the treatment is mainly based on anti-epileptic drugs and supportive therapies. This perspective opinion article discusses the current care standards for MELAS patients and revises current and innovative emerging therapies for mitochondrial stroke-like episodes.
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