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Mitochondrial encephalomyopathies: what next?
Author(s) -
DiMauro S.
Publication year - 1996
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799110
Subject(s) - mitochondrial encephalomyopathies , mitochondrial dna , human genetics , mitochondrial disease , genetics , biology , respiratory chain , mitochondrial myopathy , mitochondrial respiratory chain , bioinformatics , mitochondrion , medicine , gene
Summary In few areas of medicine has progress been more spectacular than in the field of mitochondrial diseases, especially those related to mtDNA mutations. Much remains to be done, however, and this brief review discusses the following areas of research where progress has been more limited or data are still controversial: (1) the molecular basis of respiratory‐chain defects due to nuclear DNA mutations; (2) defects of mitochondrial protein importation; (3) defects of intergenomic signalling; (4) pathophysiology of mtDNA‐related disorders; (5) ageing and age‐related neuro‐degenerative diseases; (6) therapy; and (7) genetic counselling.