Gene responsible for stargardt-like dominant macular dystrophy

Details Gene responsible for stargardt-like dominant macular dystrophy Gene responsible for stargardt-like dominant macular dystrophy

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A61K 38/00 (2006.01) A61K 48/00 (2006.01) C07H 21/04 (2006.01) C07K 14/47 (2006.01) C07K 16/00 (2006.01) C12N 1/20 (2006.01) C12P 21/06 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2409705

The gene responsible for Stargardt-like macular dystrophy has been identified, along with its normal allelic form. The mutant gene encodes a mutant protein containing a frameshift mutation, resulting in abnormal fatty acid synthesis and transport in the retina. Also disclosed are assays for Stargardt-like macular dystrophy and therapies.

On a identifié le gène responsable de la dystrophie maculaire de Stargardt, ainsi que sa forme allèle normale. Ce gène mutant code une protéine mutante contenant un décalage de cadre de lecture, ce qui a pour effet une synthèse anormale des acides gras et leur transport dans la rétine. L'invention concerne également des essais concernant la dystrophie maculaire de Stargardt et des thérapies.

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