PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Neil V Morgan; Shawn K 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 Johnson; Barbara Levinson; C Geoffrey Woods; Beth Wilmot; Patricia Kramer; Jane Gitschier; Eamonn R Maher; Susan J Hayflick

doi:10.1038/ng1826

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Neil V Morgan, Shawn K 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 J Hayflick

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	752-754
Number of pages	3
Journal	Nature Genetics
Volume	38
Issue number	7
DOIs	https://doi.org/10.1038/ng1826
Publication status	Published - 18 Jul 2006

Keywords

Brain/metabolism
Chromosomes, Human, Pair 22/genetics
Female
Heredodegenerative Disorders, Nervous System/genetics
Humans
Iron/metabolism
Male
Mutation
Neuroaxonal Dystrophies/genetics
Phospholipases A/chemistry
Phospholipases A2
Syndrome

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10.1038/ng1826

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Morgan, N. V., Westaway, S. K., Morton, J. E. V., 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, R. C., Simonati, A., Schanen, C., ... Hayflick, S. J. (2006). PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nature Genetics, 38(7), 752-754. https://doi.org/10.1038/ng1826

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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.",

keywords = "Brain/metabolism, Chromosomes, Human, Pair 22/genetics, Female, Heredodegenerative Disorders, Nervous System/genetics, Humans, Iron/metabolism, Male, Mutation, Neuroaxonal Dystrophies/genetics, Phospholipases A/chemistry, Phospholipases A2, Syndrome",

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

year = "2006",

month = jul,

day = "18",

doi = "10.1038/ng1826",

language = "English",

volume = "38",

pages = "752--754",

journal = "Nature Genetics",

issn = "1061-4036",

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Morgan, NV, Westaway, SK, 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, SJ 2006, 'PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron', Nature Genetics, vol. 38, no. 7, pp. 752-754. https://doi.org/10.1038/ng1826

TY - JOUR

T1 - PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

AU - Morgan, Neil V

AU - Westaway, Shawn K

AU - Morton, Jenny E V

AU - Gregory, Allison

AU - Gissen, Paul

AU - Sonek, Scott

AU - Cangul, Hakan

AU - Coryell, Jason

AU - Canham, Natalie

AU - Nardocci, Nardo

AU - Zorzi, Giovanna

AU - Pasha, Shanaz

AU - Rodriguez, Diana

AU - Desguerre, Isabelle

AU - Mubaidin, Amar

AU - Bertini, Enrico

AU - Trembath, Richard C

AU - Simonati, Alessandro

AU - Schanen, Carolyn

AU - Johnson, Colin A

AU - Levinson, Barbara

AU - Woods, C Geoffrey

AU - Wilmot, Beth

AU - Kramer, Patricia

AU - Gitschier, Jane

AU - Maher, Eamonn R

AU - Hayflick, Susan J

PY - 2006/7/18

Y1 - 2006/7/18

N2 - 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.

AB - 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.

KW - Brain/metabolism

KW - Chromosomes, Human, Pair 22/genetics

KW - Female

KW - Heredodegenerative Disorders, Nervous System/genetics

KW - Humans

KW - Iron/metabolism

KW - Male

KW - Mutation

KW - Neuroaxonal Dystrophies/genetics

KW - Phospholipases A/chemistry

KW - Phospholipases A2

KW - Syndrome

U2 - 10.1038/ng1826

DO - 10.1038/ng1826

M3 - Article

C2 - 16783378

SN - 1061-4036

VL - 38

SP - 752

EP - 754

JO - Nature Genetics

JF - Nature Genetics

IS - 7

ER -

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Abstract

Keywords

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