Mitochondrial DNA mutations in human diseases: a review

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 geno...

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Veröffentlicht in:Biochimie 1992-02, Vol.74 (2), p.123-130
1. Verfasser: Lestienne, P.
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description 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 kind of mitochondrial DNA in the various tissues, which in turn affects the production of ATP in these tissues. Research on nuclear gene products interfering with mtDNA or with its gene products is the next step towards understanding the etiology of these diseases.
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subjects Analytical, structural and metabolic biochemistry
Biological and medical sciences
Chromosome Deletion
deletion
disease
DNA
Dna, deoxyribonucleoproteins
DNA, Mitochondrial - genetics
Fundamental and applied biological sciences. Psychology
Genetic Diseases, Inborn - genetics
Humans
man
mitochondria
Mutation
Nucleic acids
protein biosynthesis
protein synthesis
reviews
RNA, Transfer - genetics
title Mitochondrial DNA mutations in human diseases: a review
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