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Research from Research Center in the area of molecular vision research published
2009 AUG 25 - (NewsRx.com) -- In this recent article published in the journal Molecular Vision, scientists in Riyadh, Saudi Arabia conducted a study "To describe the first cataract-causing recessive mutation in the crystalline, alpha-b gene CRYAB. Homozygosity mapping complemented by linkage analysis was performed in a family with autosomal recessive juvenile cataract." "A homozygous missense mutation in CRYAB was identified. The mutation replaces a highly conserved amino acid residue in a dual function domain of the protein. None of the patients has clinically significant myopathy, but the oldest patient (the mother) has retinal pathology. This is the first report of a recessive mutation in CRYAB causing cataract," wrote L. Abusafieh and colleagues, Research Center. The researchers concluded: "Based on recent knowledge of the structure and function of this small heat shock protein, we speculate on the potential mutational mechanism.." Abusafieh and colleagues published their study in Molecular Vision (Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. Molecular Vision, 2009;15(102-04):980-984). Additional information can be obtained by contacting F.S. Alkuraya, King Faisal Specialist Hospital & Research Center, Dept. of Genetics, MBC 03, POB 3354, Riyadh 11211, Saudi Arabia. The publisher of the journal Molecular Vision can be contacted at: Molecular Vision, C, O Jeff Boatright, Laboratory B, 5500 Emory Eye Center, 1327 Clifton Rd., N E, Atlanta, GA 30322, USA. Keywords: Saudi Arabia, Riyadh, Life Sciences, Molecular Vision, Research Center. This article was prepared by Science Letter editors from staff and other reports. Copyright 2009, Science Letter via NewsRx.com.
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