title: Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835.
abstract: In order to verify the pathogenic role of mitochondria in Rett syndrome, the results are reported of skin and muscle biopsies in two RS patients, showing morphological ultrastructural abnormalities in mitochondrial number and size. The investigation on two recently described mtDNA mutations (at nt 10463 and 2835) (Lewis et al., 1995; Tang et al., 1997) gave contrasting results with respect to previously reported data. In particular, the first mutation has been found in seven subjects, five of whom were from two different control groups, while the second mutation has been not detected in any of the 26 patients and controls. Although these results present some signs of a morphological impairment of mitochondria, they do not support the hypothesis that the two mutations may have a primary role in the pathogenesis of the syndrome and indicate the need for further investigations on the role of mtDNA in the pathogenesis of the syndrome.
authors.forename: E
authors.initials: E
authors.lastname: Cardaioli
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: G
authors.initials: G
authors.lastname: Hayek
authors.forename: M
authors.initials: M
authors.lastname: Zappella
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D008928:Mitochondria / Q000235:genetics* / Q000473:pathology; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000648:ultrastructure; D009154:Mutation; D012150:Polymorphism, Restriction Fragment Length; D015518:Rett Syndrome / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000648:ultrastructure
chemical_list: D004272:DNA, Mitochondrial