PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
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ABSTRACT:
SUBMITTER: Morgan NV
PROVIDER: S-EPMC2117328 | biostudies-literature | 2006 Jul
REPOSITORIES: biostudies-literature
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PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan Neil V NV Westaway Shawn K SK Morton Jenny E V JE Gregory Allison A Gissen Paul P Sonek Scott S Cangul Hakan H Coryell Jason J Canham Natalie N Nardocci Nardo N Zorzi Giovanna G Pasha Shanaz S Rodriguez Diana D Desguerre Isabelle I Mubaidin Amar A Bertini Enrico E Trembath Richard C RC Simonati Alessandro A Schanen Carolyn C Johnson Colin A CA Levinson Barbara B Woods C Geoffrey CG Wilmot Beth B Kramer Patricia P Gitschier Jane J Maher Eamonn R ER Hayflick Susan J SJ
Nature genetics 20060618 7
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 ...[more]
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