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Titolo:
Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835
Autore:
Cardaioli, E; Dotti, MT; Hayek, G; Zappella, M; Federico, A;
Indirizzi:
Univ Siena, Inst Neurol Sci, Res Ctr Neurohandicaps, I-53100 Siena, Italy Univ Siena Siena Italy I-53100 Ctr Neurohandicaps, I-53100 Siena, Italy Hosp Siena, Unit Child Neurol & Psychiat, Siena, Italy Hosp Siena Siena Italy iena, Unit Child Neurol & Psychiat, Siena, Italy
Titolo Testata:
JOURNAL OF SUBMICROSCOPIC CYTOLOGY AND PATHOLOGY
fascicolo: 2, volume: 31, anno: 1999,
pagine: 301 - 304
SICI:
1122-9497(199904)31:2<301:SOMPOR>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
AUTISM; DNA;
Keywords:
Rett syndrome; mitochondrial DNA; mutational analysis; autism;
Tipo documento:
Letter
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Federico, A Univ Siena, Inst Neurol Sci, Res Ctr Neurohandicaps, Viale Bracci, I-53100Siena, Italy Univ Siena Viale Bracci Siena Italy I-53100 53100Siena, Italy
Citazione:
E. Cardaioli et al., "Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835", J SUBMIC CY, 31(2), 1999, pp. 301-304

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 ofthe syndrome and indicate the need for further investigations on the role of mtDNA in the pathogenesis of the syndrome.

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Documento generato il 19/01/20 alle ore 01:15:00