title: 2-Hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase.
abstract: Fatty acid 2-hydroxylase (FA2H) is the enzyme responsible for the hydroxylation of free fatty acids prior to their incorporation into 2-hydroxylated sphingolipids, which are the major constituents of the myelin leaflet. Mutated FA2H has been associated with neurodegenerative diseases. Decreased FA2H activity was demonstrated only in vitro, but not in patient tissues. In this study we characterized the 2-hydroxylated sphingomyelin (SM) profiles in blood and fibroblasts from patients harboring a deleterious FA2H mutatation, and found that hydroxylated fatty acid sphingomyelin is present in normal amounts in patient lymphocytes, but decreased to a different extent in fibroblasts and erythrocytes.
authors: Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors: Phyllis
authors: P
authors: Dan
authors: Simon
authors: S
authors: Edvardson
authors: Jacek
authors: J
authors: Bielawski
authors: Hiroko
authors: H
authors: Hama
authors: Ann
authors: A
authors: Saada
references: J Biol Chem. 2007 May 4;282(18):13211-9
references: 17355976
references: J Lipid Res. 2007 Feb;48(2):417-24
references: 17093290
references: Ann Neurol. 2010 Nov;68(5):611-8
references: 20853438
references: Hum Mutat. 2010 Apr;31(4):E1251-60
references: 20104589
references: Glia. 2011 Jul;59(7):1009-21
references: 21491498
references: Methods Mol Biol. 2009;579:443-67
references: 19763489
references: Biochim Biophys Acta. 2010 Apr;1801(4):405-14
references: 20026285
references: J Biol Chem. 1972 Feb 25;247(4):1055-6
references: 5010062
references: Methods. 2006 Jun;39(2):82-91
references: 16828308
references: J Biol Chem. 2004 Nov 19;279(47):48562-8
references: 15337768
references: Am J Hum Genet. 2008 Nov;83(5):643-8
references: 19068277
references: J Neurosci. 2008 Sep 24;28(39):9741-54
references: 18815260
references: Biochim Biophys Acta. 1988 Mar 3;938(3):361-72
references: 3349071
references: J Lipid Res. 1963 Apr;4:139-43
references: 14168143
references: J Biol Chem. 1951 Nov;193(1):265-75
references: 14907713