title: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
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.
authors.affiliation: Section of Medical & Molecular Genetics, University of Birmingham School of Medicine, Edgbaston, Birmingham B15 2TT, UK.
authors.forename: Neil V
authors.initials: NV
authors.lastname: Morgan
authors.forename: Shawn K
authors.initials: SK
authors.lastname: Westaway
authors.forename: Jenny E V
authors.initials: JE
authors.lastname: Morton
authors.forename: Allison
authors.initials: A
authors.lastname: Gregory
authors.forename: Paul
authors.initials: P
authors.lastname: Gissen
authors.forename: Scott
authors.initials: S
authors.lastname: Sonek
authors.forename: Hakan
authors.initials: H
authors.lastname: Cangul
authors.forename: Jason
authors.initials: J
authors.lastname: Coryell
authors.forename: Natalie
authors.initials: N
authors.lastname: Canham
authors.forename: Nardo
authors.initials: N
authors.lastname: Nardocci
authors.forename: Giovanna
authors.initials: G
authors.lastname: Zorzi
authors.forename: Shanaz
authors.initials: S
authors.lastname: Pasha
authors.forename: Diana
authors.initials: D
authors.lastname: Rodriguez
authors.forename: Isabelle
authors.initials: I
authors.lastname: Desguerre
authors.forename: Amar
authors.initials: A
authors.lastname: Mubaidin
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.forename: Richard C
authors.initials: RC
authors.lastname: Trembath
authors.forename: Alessandro
authors.initials: A
authors.lastname: Simonati
authors.forename: Carolyn
authors.initials: C
authors.lastname: Schanen
authors.forename: Colin A
authors.initials: CA
authors.lastname: Johnson
authors.forename: Barbara
authors.initials: B
authors.lastname: Levinson
authors.forename: C Geoffrey
authors.initials: CG
authors.lastname: Woods
authors.forename: Beth
authors.initials: B
authors.lastname: Wilmot
authors.forename: Patricia
authors.initials: P
authors.lastname: Kramer
authors.forename: Jane
authors.initials: J
authors.lastname: Gitschier
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Hayflick
mesh_terms: D001921:Brain / Q000378:metabolism*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D005260:Female; D020271:Heredodegenerative Disorders, Nervous System / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008297:Male; D009154:Mutation; D019150:Neuroaxonal Dystrophies / Q000235:genetics / Q000378:metabolism; D010741:Phospholipases A / Q000737:chemistry / Q000235:genetics*; D054467:Phospholipases A2; D013577:Syndrome
chemical_list: D007501:Iron; D010741:Phospholipases A; D054467:Phospholipases A2