NEW YORK (Reuters Health) - Mutations in the gene for PINK1, a protein kinase that seems to protect mitochondria from damage, appear to be a cause of autosomal recessive Parkinson’s disease (PD) in Asian and Irish populations, according to the findings of two studies reported in the October 26th issue of Neurology.
These findings support and expand on previous reports by showing that PINK1-related PD is not limited to European populations and is probably found worldwide.
In the first study, Dr. Nobutaka Hattori, from the Juntendo University School of Medicine in Tokyo, and colleagues performed a linkage analysis in 36 families with autosomal recessive early-onset PD. All family members tested negative for parkin and DJ-1 mutations, which have been linked to PD in the past.
Eight families were identified with genetic evidence pointing to PINK1 mutations as the cause of their disease. These families included three Japanese, two Taiwanese, one Turkish, one Israeli, and one Philippine.
In the second study, Dr. T. Lynch, from the Mater Misericordiae University Hospital in Dublin, and colleagues tested for PINK1 gene mutations in 290 patients with early- and late-onset PD.
Of these patients, one was identified with a PINK1 gene mutation, the authors note. Moreover, this mutation, which has not previously been identified, involved a region outside of the protein’s putative kinase domain.
In a related editorial, Dr. Andrew Singleton, from the National Institutes of Health in Bethesda, Maryland, comments that PINK1 gene mutations are another piece in the puzzle of what causes PD. “It just remains to be seen where and when in the disease process” these mutations fit in.
Source: Neurology 2004;63:1350-1351,1482-1488. [ Google search on this article ]
Copyright © 2002 Reuters Limited. All rights reserved. Republication or redistribution of Reuters content, including by framing or similar means, is expressly prohibited without the prior written consent of Reuters. Reuters shall not be liable for any errors or delays in the content, or for any actions taken in reliance thereon. Reuters and the Reuters sphere logo are registered trademarks and trademarks of the Reuters group of companies around the world.
