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: 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
• Journal: Nature genetics (Nat Genet) Vol. 38 Issue 7 Pg. 752-4 (Jul 2006) ISSN: 1061-4036 [Print] United States
• PMID: 16783378 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• Iron
• Phospholipases A
• Phospholipases A2

Topics

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