Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
DOI: 10.1017/S1462399406000111; 19 October 2006
Usha P. Andley (2006) Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy. Expert Rev. Mol. Med. Vol. 8, Issue 25, DOI: 10.1017/S1462399406000111

Crystallins and hereditary cataracts: molecular mechanisms and potential for therapy

Usha P. Andley ^a1

^a1 Department of Ophthalmology and Visual Sciences, and of Biochemistry and Molecular Biophysics, Washington University School of Medicine, 660 S. Euclid Avenue, Campus Box 8096, St Louis, MO 63110, USA. Tel: +1 314 362 7167; Fax: +1 314 362 3638; E-mail: andley@vision.wustl.edu

Hereditary childhood cataracts can arise from single-point mutations in genes encoding crystallins, the major protein components of the lens. The cataracts are most commonly inherited by an autosomal dominant mechanism. The nature of the changes in the lens resulting from these point mutations in crystallin genes has not been fully characterised. While aggregation and light scattering associated with expression of the mutant crystallin protein may be an end point, it is also necessary to determine the progression of changes induced at the level of development and differentiation. A key finding in recent work is that cell death or cytotoxicity is associated with mutations in aA-crystallin. The variable morphology or localisation of the cataract in different pedigrees, even with the identical crystallin gene mutation, has led to the idea that other environmental or genetic factors interact to give the final lens phenotype. The study of mechanisms of formation of hereditary cataracts may lead to a greater understanding of the mechanisms that lead to age-related cataracts, a very common cause of blindness in the ageing population.

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