PLA2G6, encoding a phospholipase A(2), is mutated in neurodegenerative disorders with high brain iron

N V Morgan, S K Westaway, J E V Morton, A Gregory, P Gissen, S Sonek, H Cangul, J Coryell, N Canham, N Nardocci, G Zorzi, S Pasha, D Rodriguez, I Desguerre, A Mubaidin, E Bertini, R C Trembath, A Simonati, C Schanen, C A JohnsonB Levinson, C G Woods, B Wilmot, P Kramer, J Gitschier, E R Maher, S J Hayflick

Research output: Contribution to journalArticlepeer-review

457 Citations (Scopus)

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 A(2), in NBIA, INAD and the related Karak syndrome. This discovery implicates phospholipases in the pathogenesis of neurodegenerative disorders with iron dyshomeostasis
Original languageEnglish
Pages (from-to)752 - 754
Number of pages3
JournalNature Genetics
Volume38
Issue number7
DOIs
Publication statusPublished - Jul 2006

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