사립체 질환

Abstract

Mitochondria contain the respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce the majority of cellular energy in the form of ATP. Mitochondrial disorders are either due to sporadic or inherited mutations of genes located in nuclear or mitochondrial DNA or due to other exogenous factors. Although several proteins related with signalling, assembling, transporting, and enzymatic function can be impaired in mitochondrial disorders, most frequently however, 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 slowly progressive course and present with multiorgan involvement with varying onset between birth and late adulthood. They represent a diagnostic challenge because of their wide variation in presentation and course. Systems frequently affected in mitochondrial disorders are peripheral nervous system, brain, endocrine system, heart, eyes, ears, guts, kidney and bone marrow. Although there is no specific therapy and cure for mitochondrial disorders, the rapidly increasing understanding of the pathophysiological background of the disorders may further facilitate the diagnostic approach and open perspectives to, possibly causative therapies in future.