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Titolo:
Non-secretion of mutant proteins of the glaucoma gene myocilin in culturedtrabecular meshwork cells and in aqueous humor
Autore:
Jacobson, N; Andrews, M; Shepard, AR; Nishimura, D; Searby, C; Fingert, JH; Hageman, G; Mullins, R; Davidson, BL; Kwon, YH; Alward, WLM; Stone, EM; Clark, AF; Sheffield, VC;
Indirizzi:
Alcon Res Ltd, Glaucoma Res, Ft Worth, TX 76134 USA Alcon Res Ltd Ft Worth TX USA 76134 Glaucoma Res, Ft Worth, TX 76134 USA Univ Iowa, Howard Hughes Med Inst, Iowa City, IA 52242 USA Univ Iowa IowaCity IA USA 52242 Hughes Med Inst, Iowa City, IA 52242 USA Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA Univ Iowa Iowa City IA USA 52242 wa, Dept Pediat, Iowa City, IA 52242 USA Univ Iowa, Dept Ophthalmol, Iowa City, IA 52242 USA Univ Iowa Iowa City IA USA 52242 Dept Ophthalmol, Iowa City, IA 52242 USA Univ Iowa, Dept Internal Med, Iowa City, IA 52242 USA Univ Iowa Iowa CityIA USA 52242 pt Internal Med, Iowa City, IA 52242 USA Univ Iowa, Dept Neurol, Iowa City, IA 52242 USA Univ Iowa Iowa City IA USA 52242 wa, Dept Neurol, Iowa City, IA 52242 USA
Titolo Testata:
HUMAN MOLECULAR GENETICS
fascicolo: 2, volume: 10, anno: 2001,
pagine: 117 - 125
SICI:
0964-6906(20010115)10:2<117:NOMPOT>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
OPEN-ANGLE GLAUCOMA; EXPRESSION; MUTATIONS; TIGR; LOCALIZATION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
38
Recensione:
Indirizzi per estratti:
Indirizzo: Clark, AF Alcon Res Ltd, Glaucoma Res, 6201 South Freeway, Ft Worth, TX 76134 USA Alcon Res Ltd 6201 South Freeway Ft Worth TX USA 76134 76134 USA
Citazione:
N. Jacobson et al., "Non-secretion of mutant proteins of the glaucoma gene myocilin in culturedtrabecular meshwork cells and in aqueous humor", HUM MOL GEN, 10(2), 2001, pp. 117-125

Abstract

Until recently, very little was known about the molecular mechanisms responsible for the development of glaucoma, a leading cause of blindness worldwide. Mutations in the glaucoma gene myocilin (MYOC, GLC1A) are associated with elevated intraocular pressure and the development of autosomal dominantjuvenile glaucoma and a subset of adult-onset glaucoma. MYOC is expressed in the trabecular meshwork (TM), a tissue responsible for drainage of aqueous humor from the eye, and the tissue involved in elevated intraocular pressure associated with glaucoma. To better understand the role of MYOC in glaucoma pathogenesis, we examined the expression of normal and mutant myocilin in cultured ocular (TM) and non-ocular cells as well as in the aqueous humor of patients with and without MYOC glaucoma. Normal myocilin was secreted from cultured cells, but very little to no myocilin was secreted from cells expressing five different mutant forms of MYOC. In addition, no mutant myocilin was detected in the aqueous humor of patients harboring a nonsense MYOC mutation (Q368X), Co-transfection of cultured cells with normal and mutant myocilin led to suppression of normal myocilin secretion. These studies suggest that MYOC glaucoma is due either to insufficient levels of secreted myocilin or to compromised TM cell function caused by congestion of the TM secretory pathway.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/09/20 alle ore 18:27:02