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

Neil V. Morgan, Shawn Westaway, Jenny E V Morton, Allison Gregory, Paul Gissen, Scott Sonek, Hakan Cangul, Jason Coryell, Natalie Canham, Nardo Nardocci, Giovanna Zorzi, Shanaz Pasha, Diana Rodriguez, Isabelle Desguerre, Amar Mubaidin, Enrico Bertini, Richard C. Trembath, Alessandro Simonati, Carolyn Schanen, Colin A. JohnsonBarbara Levinson, C. Geoffrey Woods, Beth Wilmot, Patricia Kramer, Jane Gitschier, Eamonn R. Maher, Susan Hayflick

Research output: Contribution to journalArticle

349 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 (US)
Pages (from-to)752-754
Number of pages3
JournalNature Genetics
Volume38
Issue number7
DOIs
StatePublished - Jul 2006

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Neuroaxonal Dystrophies
Phospholipases A
Neurodegenerative Diseases
Iron
Group VI Phospholipases A2
Brain
Inborn Genetic Diseases
Phospholipases
Parkinson Disease
Alzheimer Disease
Chromosomes
Calcium
Mutation
Neurodegeneration with brain iron accumulation (NBIA)

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

PLA2G6, encoding a phospholipase A 2, is mutated in neurodegenerative disorders with high brain iron. / Morgan, Neil V.; Westaway, Shawn; Morton, Jenny E V; Gregory, Allison; Gissen, Paul; Sonek, Scott; Cangul, Hakan; Coryell, Jason; Canham, Natalie; Nardocci, Nardo; Zorzi, Giovanna; Pasha, Shanaz; Rodriguez, Diana; Desguerre, Isabelle; Mubaidin, Amar; Bertini, Enrico; Trembath, Richard C.; Simonati, Alessandro; Schanen, Carolyn; Johnson, Colin A.; Levinson, Barbara; Woods, C. Geoffrey; Wilmot, Beth; Kramer, Patricia; Gitschier, Jane; Maher, Eamonn R.; Hayflick, Susan.

In: Nature Genetics, Vol. 38, No. 7, 07.2006, p. 752-754.

Research output: Contribution to journalArticle

Morgan, NV, Westaway, S, Morton, JEV, Gregory, A, Gissen, P, Sonek, S, Cangul, H, Coryell, J, Canham, N, Nardocci, N, Zorzi, G, Pasha, S, Rodriguez, D, Desguerre, I, Mubaidin, A, Bertini, E, Trembath, RC, Simonati, A, Schanen, C, Johnson, CA, Levinson, B, Woods, CG, Wilmot, B, Kramer, P, Gitschier, J, Maher, ER & Hayflick, S 2006, 'PLA2G6, encoding a phospholipase A 2, is mutated in neurodegenerative disorders with high brain iron', Nature Genetics, vol. 38, no. 7, pp. 752-754. https://doi.org/10.1038/ng1826
Morgan, Neil V. ; Westaway, Shawn ; Morton, Jenny E V ; Gregory, Allison ; Gissen, Paul ; Sonek, Scott ; Cangul, Hakan ; Coryell, Jason ; Canham, Natalie ; Nardocci, Nardo ; Zorzi, Giovanna ; Pasha, Shanaz ; Rodriguez, Diana ; Desguerre, Isabelle ; Mubaidin, Amar ; Bertini, Enrico ; Trembath, Richard C. ; Simonati, Alessandro ; Schanen, Carolyn ; Johnson, Colin A. ; Levinson, Barbara ; Woods, C. Geoffrey ; Wilmot, Beth ; Kramer, Patricia ; Gitschier, Jane ; Maher, Eamonn R. ; Hayflick, Susan. / PLA2G6, encoding a phospholipase A 2, is mutated in neurodegenerative disorders with high brain iron. In: Nature Genetics. 2006 ; Vol. 38, No. 7. pp. 752-754.
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AU - Sonek, Scott

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AU - Coryell, Jason

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