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Titolo:
Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
Autore:
Guan, MX; Fischel-Ghodsian, N; Attardi, G;
Indirizzi:
Childrens Hosp, Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA Childrens Hosp Cincinnati OH USA 45229 an Genet, Cincinnati, OH 45229 USA Univ Cincinnati, Coll Med, Dept Pediat, Cincinnati, OH 45229 USA Univ Cincinnati Cincinnati OH USA 45229 Pediat, Cincinnati, OH 45229 USA CALTECH, Div Biol, Pasadena, CA 91125 USA CALTECH Pasadena CA USA 91125CALTECH, Div Biol, Pasadena, CA 91125 USA Cedars Sinai Med Ctr, Ahmanson Dept Pediat, Steven Spielberg Pediat Res Ctr, Los Angeles, CA 90048 USA Cedars Sinai Med Ctr Los Angeles CA USA 90048, Los Angeles, CA 90048 USA
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 6, volume: 10, anno: 2001,
pagine: 573 - 580
SICI:
0964-6906(20010315)10:6<573:NBDBPI>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
NON-SYNDROMIC DEAFNESS; RIBOSOMAL-RNA GENE; AMINOGLYCOSIDE OTOTOXICITY; SENSORINEURAL DEAFNESS; NONSYNDROMIC DEAFNESS; TRNA(SER(UCN)) GENE; HEARING IMPAIRMENT; POINT MUTATION; HUMAN-CELLS; MTDNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Guan, MX Childrens Hosp, Med Ctr, Div Human Genet, 3333 Burnet Ave,TCHRF 1042, Cincinnati, OH 45229 USA Childrens Hosp 3333 Burnet Ave,TCHRF 1042 Cincinnati OH USA 45229
Citazione:
M.X. Guan et al., "Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation", HUM MOL GEN, 10(6), 2001, pp. 573-580

Abstract

The pathogenetic mechanism of the human mito- chondrial 128 rRNA gene mutation at position 1555, associated with non-syndromic deafness and aminoglycoside-induced deafness, has been investi gated in 33 transformants obtainedby transferring mitochondria from lymphoblastoid cell lines into human mitochondrial DNA (mtDNA)-less (p degrees 206) cells. In this nearly constant nuclear background, 15 transformants derived from five symptomatic individuals from a large Arab-israeli family, carrying this mutation in homoplasmicform, exhibited significant decreases compared with nine control transformants in the rate of growth in a medium containing galactose instead of glucose, as well as in the rates of mitochondrial protein synthesis and of substrate- dependent respiration. Most significantly, these decreases were verysimilar to those observed in nine transformants derived from three asymptomatic members of the family. This result in transmitochondrial cybrids is in contrast to the differences in the same parameters previously demonstrated between the original lymphoblastoid cell lines derived from symptomatic and asymptomatic members of the glycoside-induced deafness and non-syndromicdeafness Arab-Israeli family. In addition, the intragroup variability in biochemical dysfunction among the lymphoblastoid cell lines from different symptomatic or asymptomatic or control individuals was significantly reducedin the derived mitochondrial transformants carrying the same nuclear background. These observations provide strong genetic and biochemical evidence in support of the idea that the nuclear background plays a determinant role in the phenotypic manifestation of the non-syndromic deafness associated with the A1555G mutation.

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Documento generato il 31/03/20 alle ore 10:09:54