사립체 질환의 이해

• 영문명: Mitochondrial Disorders
• 발행기관: 대한소아신경학회
• 저자명: 이영목(Young-Mock Lee)
• 간행물 정보: 『Annals of Child Neurology(구 대한소아신경학회지)』대한소아신경학회지 제15권 제1호, 11~19쪽, 전체 9쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2007.05.30

영문 초록

Mitochondria contain respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce a main part of cellular energy in the form of AT P. Mitochondrial disorders occur either due to sporadic or inherited mutations of the genes located in the nuclear or mitochondrial DNA or due to other exogenous factors. Although several proteins related with signalling, assembling, transporting, and enzymatic functions can be impaired in mitochondrial disorders, most frequently the activity of the respiratory chain protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. Mitochondrial disorders usually show a chronic and slowly progressive course and present with multiorgan involvement with varying onsets between birth and late adulthood. They represent a diagnostic challenge because of their wide variations in the presentation and the course. T he systems frequently affected in mitochondrial disorders are the peripheral nervous system, brain, endocrine system, heart, eyes, ears, guts, kidneys and bone marrow. Although there is actually no specific therapy and cure for mitochondrial disorders, the rapidly increasing understanding of the pathophysiological background of mitochondrial disorders may further facilitate the diagnostic approach and open perspectives to the future and possibly causative therapies.

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키워드

Mitochondria Energy metabolism Mitochondrial disorder mtDNA