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The PARK11 gene is GIGYF2, involved in insulin-like growth factor (IGF) signaling, according to this report. The chromosomal region encompassing PARK11 contains 73 potential gene candidates, including GIGYF2 (Grb10-interacting GYF protein 2). Because Grb10 and GIGYF proteins have been previously implicated in insulin signaling, and insulin signaling has been associated with neurodegenerative disease, the authors sequenced the GIGYF2 gene in French and Italian familial PD patients and controls (249 patients, 227 controls). They identified 7 heterozygous mutations causing amino acid changes in 12 unrelated PD patients, none of which were found in controls. One mutation occurred in 4 patients, 1 in 3 patients, and the rest in a single patient each. The mean age at onset for the 12 patients was 48.7 +/- 10.2 years. One additional mutation was discovered in 1 control patient, a 71-year-old woman. In 4 families with at least 1 other affected family member who could be genotyped, the mutation segregated with the disease. One family containing two affected individuals (a mother with onset at age 73, and son with onset at age 41), also included two unaffected carrier siblings, ages 61 and 73, suggesting reduced penetrance. "The function of the GIGFY2 protein is presently unknown," the authors note. It is strongly expressed in multiple areas of the central nervous system, and is hypothesized to function in mRNA splicing or processing. Mutations in the GIGYF2 (TNRC15 gene at the PARK11 locus in familial Parkinson disease C Lautier, S Goldwurm, A Durr, B Giovannone, WG Tsirias, G Pezzoli, A Brice, RJ Smith Am J Human Genetics 2008;82:822-833 ---------------------------------------------------------------------- To sign-off Parkinsn send a message to: mailto:[log in to unmask] In the body of the message put: signoff parkinsn