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Titolo:
MITOCHONDRIAL-DNA POLYMORPHISM IN DISEASE - A POSSIBLE CONTRIBUTOR TORESPIRATORY DYSFUNCTION
Autore:
LERTRIT P; KAPSA RMI; JEANFRANCOIS MJB; THYAGARAJAN D; NOER AS; MARZUKI S; BYRNE E;
Indirizzi:
UNIV MELBOURNE,DEPT CLIN NEUROSCI FITZROY VIC 3065 AUSTRALIA UNIV MELBOURNE,DEPT CLIN NEUROSCI FITZROY VIC 3065 AUSTRALIA ST VINCENTS HOSP FITZROY VIC 3065 AUSTRALIA
Titolo Testata:
Human molecular genetics
fascicolo: 11, volume: 3, anno: 1994,
pagine: 1973 - 1981
SICI:
0964-6906(1994)3:11<1973:MPID-A>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
HEREDITARY OPTIC NEUROPATHY; RAGGED-RED FIBERS; LACTIC-ACIDOSIS; EPISODES MELAS; COMPLEX-I; MYOCLONIC EPILEPSY; PROTEIN-SYNTHESIS; TRANSFER RNALYS; MTDNA MUTATION; POINT MUTATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
48
Recensione:
Indirizzi per estratti:
Citazione:
P. Lertrit et al., "MITOCHONDRIAL-DNA POLYMORPHISM IN DISEASE - A POSSIBLE CONTRIBUTOR TORESPIRATORY DYSFUNCTION", Human molecular genetics, 3(11), 1994, pp. 1973-1981

Abstract

Intergenomic variation in the human mitochondrial genome was examinedin 27 mtDNA sequences using a pairwise analysis technique. Analysis of 16 of these mtDNA sequences from patients with mitochondrial cytopathies indicated a wide range between different mitochondrial genes in the degree of nucleotide variation from the standard Cambridge sequence. Mean complex I polymorphic frequencies in cytopathic (CPEO, MERRF, MELAS and LHON collectively) patients and in LHON patients differed significantly from controls (P less than or equal to 0.05, t). Total meansequence divergence (mean number of diverging nucleotides between twosequences per 100 bp) over the entire mtDNA coding region was 0.21% for cytopathies (n = 16) as opposed to 0.18% for a control group (n = 4). Within the cytopathy group, the greatest pairwise divergence was observed in ND3 and ND6 subunits of complex I (0.46 and 0.70% respectively) and the magnitude of specific gene divergences differed considerably from those observed for the corresponding genes in the control population. The extent to which the increased variation in ND3 and ND6 is a general phenomenon applicable to all subjects rather than a finding specific to cytopathies cannot be stated with certainty given the small control group. Regardless as to which of these suggestions is correct, the possibility exists that increased nucleotide variation in certain mitochondrial ND subunits may contribute to respiratory inefficiency through a cumulative effect of a series of polymorphisms of minor individual mutagenic potential.

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Documento generato il 13/07/20 alle ore 18:03:22