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Human Molecular Genetics, 2002, Vol. 11, No. 26 3351-3359
© 2002 Oxford University Press

Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice

Dominique Helmlinger1, Gaël Yvert1,{dagger}, Serge Picaud2, Karine Merienne1, José Sahel2, Jean-Louis Mandel1 and Didier Devys1,*

1Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, B.P.10142, 67404 ILLKIRCH Cedex, CU de Strasbourg, France and 2Laboratoire de physiopathologie de la rétine, INSERM EMI-99-18, Hôpital Saint-Antoine—Bâtiment Kourislky, 184, rue du Faubourg Saint-Antoine, 75571 PARIS Cedex 12f, France

Received September 19, 2002; Revised October 11, 2002; Accepted October 22, 2002

Huntington's disease (HD) and spinocerebellar ataxia type 7 (SCA7) belong to a group of progressive neurodegenerative diseases caused by polyglutamine (polyQ) expansions. SCA7 is the only one to display degeneration in the retina, a tissue usually spared in HD. We previously described a SCA7 transgenic retinal model expressing mutant full length ataxin-7 in rod photoreceptors. These mice develop a severe and characteristic retinopathy. We show here that R6 transgenic mice, which reproduce many features of HD, express mutant huntingtin in the retina leading to strong vision deficiencies and retinal dystrophy. These two different polyQ mouse models exhibit comparable early and progressive retinal degeneration and dysfunction. These abnormalities are reminiscent of other retinal degeneration phenotypes (in particular rd7/rd7 mice) where photoreceptor cell loss occurs. Retinopathy in R6 and R7E models can be monitored in living mice by ERG and fundus examination, which can facilitate in vivo evaluation of therapeutic agents in polyQ disorders.

* To whom correspondence should be addressed. Email: devys{at}igbmc.u-strasbg.fr

{dagger} Present address:Fred Hutchinson Cancer Research Center, Seattle, WA 98109, USA.


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