Restoration of phytanic acid oxidation in Refsum disease fibroblasts from patients with mutations in the phytanoyl‐CoA hydroxylase gene

FEBS Letters

Khan, Mushfiquddin¹  Singh, Inderjit¹  Chahal, Amarjit¹  Barbosa, Ernest¹  Pai, Shashidhar G¹ 

[1] Department of Pediatrics, 316 CSB, Medical University of South Carolina, Charleston, SC 29425, USA

关键词: Refsum disease;    α-oxidation;    Phytanoyl-CoA hydroxylase;    Phytanic acid;    RD;    Refsum disease;    PAHX;    phytanoyl-CoA hydroxylase;    RPTLC;    reverse phase thin layer chromatography;   

DOI  :  10.1016/S0014-5793(98)00575-4

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

Refsum disease (RD) is biochemically characterized by the excessive accumulation of phytanic acid in tissues and body fluids due to deficiency of phytanoyl-CoA hydroxylase (PAHX). In this study, we screened three RD patients and identified a novel deletion (88 amino acids), and a missense mutation (Arg275Trp) in the previously reported PAHX cDNA (Jansen et al., 1997; Mihalik et al., 1997). Moreover, transfection of skin fibroblasts from two RD patients with wild-type PAHX gene restored the activity for α-oxidation of phytanic acid. Southern analysis on a somatic cell hybrid panel detected the PAHX gene on chromosome 10, corroborating radiation hybrid and homozygosity mapping data (Mihalik et al., 1997; Nadal et al., 1995).

【 授权许可】

Unknown