Génétique héréditaire : recherche actuelle

Abstrait

Altered Mitochondrial Function and Cystic Fibrosis

Awasthi A, Prasad B and Kumar J

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutation in cystic fibrosis transmembrane conductance regulator gene (CFTR). CFTR is a membrane glycoprotein which functions as cyclic adenosine monophosphate (cAMP) activated anion channel. Mutation in CFTR effect’s its synthesis, processing, regulation and function resulting in CF. Mutated CFTR results in dysregulation of fluid and electrolyte transport across epithelial cell membranes. Mutated CFTR has also been implicated to alter mitochondrial structure and function. All the probable mitochondrial functions like components of electron transport chain, calcium buffering, reactive oxygen species generation, levels of mitochondrial glutathione have been implicated to be effected in CF. CFTR has also been reported to regulate functioning of two mitochondrial genes CISD1 and MT-ND4. All the reports illustrating the role of CF in altering mitochondrial function are scrutinized and presented in this review.