PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
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Open Access
- 18 June 2006
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 38 (7) , 752-754
- https://doi.org/10.1038/ng1826
Abstract
Neurodegenerative disorders with high brain iron include Parkinson disease, Alzheimer disease and several childhood genetic disorders categorized as neuroaxonal dystrophies. We mapped a locus for infantile neuroaxonal dystrophy (INAD) and neurodegeneration with brain iron accumulation (NBIA) to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis.Keywords
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