REEP – a new HSP gene discovered

REEP, a newly discovered gene,  is the third-most common gene that causes HSP.

The finding was made by scientists at Duke University in the USA.  It is also called SPG 31 because it was the thirty-first gene found to be implicated in HSP, although 4 have been withdrawn over the years.

Scientists say that defects/mutations in the REEP gene account for 6 – 7% of all HSP.  They believe a mutation in REEP may disable the proteins for which it codes from helping mitochondria (tiny energy factories in the cell) perform their normal function of supporting cells’ energy production.

Scientists at Duke have licensed Athena Diagnostics to develop and market genetic tests for mutations in REEP.  Athena is now promoting a 4-way test for SPG 4, SPG 3A, SPG 6 and REEP.  The price for the test has not been published.
SOURCE: Am J Hum Genet. 2006 Aug;79(2):365-9. Epub 2006 May 26.

Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31   

S Zuchner, G Wang, KN Tran-Viet, MA Nance, PC Gaskell, JM Vance, AE Ashley-Koch, and MA Pericak-Vance