- PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Nature genetics (2006-06-20)
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
PMID16783378
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.
MATERIALS
Product Number
Brand
Product Description
Sigma-Aldrich
Phospholipase A2 from porcine pancreas, ammonium sulfate suspension, ≥600 units/mg protein
Sigma-Aldrich
Phospholipase A2 from honey bee venom (Apis mellifera), salt-free, lyophilized powder, 600-2400 units/mg protein