A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia.

Journal of neurology (2007-04-11)
Jakob Hansen, Kirsten Svenstrup, Debbie Ang, Marit N Nielsen, Jane H Christensen, Niels Gregersen, Jørgen E Nielsen, Costa Georgopoulos, Peter Bross
ABSTRAKT

A mutation in the HSPD1 gene has previously been associated with an autosomal dominant form of spastic paraplegia in a French family. HSPD1 encodes heat shock protein 60, a molecular chaperone involved in folding and quality control of mitochondrial proteins. In the present work we have investigated 23 Danish index patients with hereditary spastic paraplegia (HSP) for mutations in the HSPD1 gene. One patient was found to be heterozygous for a c.1381C > G missense mutation encoding the mutant heat shock protein 60 p.Gln461Glu. The mutation was also present in two unaffected brothers, but absent in 400 unrelated Danish individuals. We found that the function of the p.Gln461Glu heat shock protein 60 was mildly compromised. The c.1381C > G mutation likely represents a novel low-penetrance HSP allele.

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Sigma-Aldrich
Anti-HSPD1 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution

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