Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes.

摘要: mtDNA with a point mutation in the tRNA(Ile) gene at nucleotide position 4269 found patient fatal cardiomyopathy and tRNA(Arg) 10410 Alpers disease were transferred cytoplasmically to rho zero HeLa cells (HeLa lacking mtDNA) determine whether these novel mutations tRNA genes are responsible for defects mitochondrial respiration function observed diseases. Cybrid clones (clones of from patients) isolated, respiratory morphology mitochondria cybrid containing wild-type mutant predominantly compared. The results showed that accumulation alone without nuclear genome was sufficient produce phenotype, while not related pathogenesis reflected one rare polymorphic sites human mtDNA. Moreover, we living significantly swollen only when they contained pathogenic mtDNA, suggesting functional abnormality induced by is always associated their structure.