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Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism
Author(s) -
Ruitenbeek W.,
Wendel U.,
Hamel B. C. J.,
Trijbels J. M. F.
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/bf01799118
Subject(s) - mitochondrial dna , non mendelian inheritance , mitochondrial disease , genetics , prenatal diagnosis , point mutation , biology , human mitochondrial genetics , genetic counseling , leigh disease , mutation , cytochrome c oxidase , menkes disease , mitochondrial encephalomyopathies , mitochondrion , gene , mitochondrial myopathy , fetus , pregnancy , chemistry , copper metabolism , organic chemistry , copper
Summary Point mutations in mitochondrial DNA, as found in MELAS, MERRF, NARP and other syndromes, are inherited via the maternal lineage. Genetic counselling can be beneficial, but prenatal diagnosis is not advantageous in these syndromes. Empirical data about the recurrence risk can be applied in Leber disease (LHON). Mitochondrial disorders not associated with a point mutation have a sporadic nature (large deletions/duplications in mitochondrial DNA) or are transmitted according to Mendelian laws. Autosomal dominant inheritance is likely to be found in disorders with depletion of mitochondrial DNA. X‐linked mode of inheritance is seen in Menkes disease, Barth syndrome, and in deficiencies of the E 1 α subunit of the pyruvate dehydrogenase complex. Mutation analysis or linkage studies can be applied for carrier detection and prenatal diagnosis in these three types of mitochondriopathies. The majority of the disorders with a disturbed mitochondrial energy metabolism are likely inherited in an autosomal recessive mode. Prenatal diagnosis can be performed in the cases of cytochrome c oxidase and NADH dehydrogenase deficiencies in chorionic villi in selected families.