期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 85, 期 2, 页码 248-253出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2009.06.021
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资金
- Swedish Research Council
- The Swedish Society for Medical Research
- The Torsten and Ragnar Soderbergs Fund
- Uppsala University, and University Hospital
- CEA InStitut de Genonuque
- Austrian Science Fund (FWF) [F 3002, Z 136] Funding Source: researchfish
Ichthyosis prematurity syndrome (IPS) is an autosomal-recessive disorder characterized by premature birth and neonatal asphyxia, followed by a lifelong nonscaly ichthyosis with atopic manifestations. Here we show that the gene encoding the fatty acid transport protein 4 (FATP4) is mutated in individuals with IPS. Fibroblasts derived from a patient with IPS show reduced activity of very long-chain fatty acids (VLCFA)-CoA synthetase and a specific reduction in the incorporation of VLCFA into cellular lipids. The human phenotype is consistent with Fatp4 deficiency in mice that is characterized by a severe skin phenotype, a defective permeability barrier function, and perturbed VLCFA metabolism. Our results further emphasize the importance of fatty acid metabolism for normal epidermal barrier function illustrated by deficiency of a member in the FATP family of proteins.
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