Molecular Mechanisms of Photoreceptor Degeneration in RP Caused by IMPDH1 Mutations

• DOI: 10.1007/0-387-32442-9_13
• Publication Date: 2007-08-03T16:21:57Z
• Authors: Aileen Aherne; Avril Kennan; Paul F. Kenna; Niamh McNally; G. Jane Farrar; Pete Humphries
• Keywords: Visual phototransduction; IMP Dehydrogenase

Mutations within the gene encoding inosine monophosphate dehydrogenase 1 (IMPDH1), the rate-limiting enzyme of the de novo pathway of guanine nucleotide biosynthesis, have been shown to cause the RP10 form of autosomal dominant retinitis pigmentosa (RP). This form of RP is generally early-onset and severe in those patients that have been identified to date. The two mutations originally identified in large RP10 families in 2002 were Arg224Pro and Asp226Asn substitutions, and since then several additional mutations have been identified in RP families and individual patients (Kennan et al., 2002; Bowne et al., 2002; Daiger et al., 2003; Grover et al., 2004).