Abstract

Cataract is the most common cause of blindness worldwide. One class of cataracts is hereditary cataracts that are inherited in an autosomal dominant fashion. Research in the PI's laboratory has focused on identifying gene loci and the specific mutations therein that are responsible for autosomal dominant cataracts. In this proposal the PI will continue efforts to identify new families with autosomal dominant cataract and by linkage analyses continue mapping loci that segregate with the disease in existing and newly identified families and, through genome wide screens, to determine if the loci are known or newly identified. Further studies will identify new loci and/or determine the specific mutations in the affected genes. If the mutation is new experiments are proposed to test the validity of the hypothesis that the mutation is causative for the ADC by determining if the mutation causes cataracts in transgenic mice.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Research Project (R01)
Project #
5R01EY008282-13
Application #
6803079
Study Section
Visual Sciences A Study Section (VISA)
Program Officer
Chin, Hemin R
Project Start
1990-06-01
Project End
2006-08-31
Budget Start
2004-09-01
Budget End
2006-08-31
Support Year
13
Fiscal Year
2004
Total Cost
$291,260
Indirect Cost

  Institution

Name
University of Colorado Denver
Department
Ophthalmology
Type
Schools of Medicine
DUNS #
041096314
City
Aurora
State
CO
Country
United States
Zip Code
80045

  Publications

Richter, Leslie; Flodman, Pamela; Barria von-Bischhoffshausen, Fernando et al. (2008) Clinical variability of autosomal dominant cataract, microcornea and corneal opacity and novel mutation in the alpha A crystallin gene (CRYAA). Am J Med Genet A 146:833-42
Lassen, Natalie; Bateman, J Bronwyn; Estey, Tia et al. (2007) Multiple and additive functions of ALDH3A1 and ALDH1A1: cataract phenotype and ocular oxidative damage in Aldh3a1(-/-)/Aldh1a1(-/-) knock-out mice. J Biol Chem 282:25668-76
Bateman, J Bronwyn; von-Bischhoffshaunsen, Fernando R Barria; Richter, Leslie et al. (2007) Gene conversion mutation in crystallin, beta-B2 (CRYBB2) in a Chilean family with autosomal dominant cataract. Ophthalmology 114:425-32
Bateman, J Bronwyn; Richter, Leslie; Flodman, Pamela et al. (2006) A new locus for autosomal dominant cataract on chromosome 19: linkage analyses and screening of candidate genes. Invest Ophthalmol Vis Sci 47:3441-9
Shafie, Suraiya M; Barria von-Bischhoffshausen, Fernando R; Bateman, J Bronwyn (2006) Autosomal dominant cataract: intrafamilial phenotypic variability, interocular asymmetry, and variable progression in four Chilean families. Am J Ophthalmol 141:750-2
Geyer, David D; Spence, M Anne; Johannes, Meriam et al. (2006) Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract. Am J Ophthalmol 141:761-3
Kahook, M Y; Mandava, N; Bateman, J B et al. (2006) Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration. Br J Ophthalmol 90:115-6
Bateman, J B; Johannes, M; Flodman, P et al. (2000) A new locus for autosomal dominant cataract on chromosome 12q13. Invest Ophthalmol Vis Sci 41:2665-70
Bateman, J B; Geyer, D D; Flodman, P et al. (2000) A new betaA1-crystallin splice junction mutation in autosomal dominant cataract. Invest Ophthalmol Vis Sci 41:3278-85
Tong, J T; Bateman, J B (1999) Selective B-wave reduction with congenital cataract in neurofibromatosis-2. Ophthalmology 106:1681-3

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