PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
NV Morgan, SK Westaway, JEV Morton, A Gregory… - Nature …, 2006 - nature.com
Nature genetics, 2006•nature.com
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 …
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 …
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.
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