Mitochondrial DNA mutations in human diseases: a review.

Abstract excerpt

Human mitochondrial diseases have been associated recently with mitochondrial DNA mutations, duplications and deletions which impair the protein synthesis of the mitochondrial subunits of the respiratory chain complexes. A constant feature is the coincident presence of the mutated and wild type genomes which provide heteroplasmy. The clinical expression of these diseases depends on the relative expression of each...

Topics

• Chromosome Deletion
• DNA, Mitochondrial
• Genetic Diseases, Inborn
• Humans
• Mutation
• RNA, Transfer