ISSN:
1573-6903
Schlagwort(e):
Adrenoleukodystrophy
;
turnover
;
protease inhibitor
;
very long chain fatty acid
;
β-oxidation
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract The adrenoleukodystrophy (ALD) gene product, ALD protein (ALDP), was not detected in fibro-blasts from our or most other patients with ALD as determined by immunoblot or immunocyto-chemistry. We investigated the stability of mutant ALDP and found from pulse-chase experiments that the respective half-lives of the normal and mutant #140 (Gly512Ser) and #249 (Arg660Trp) were 72.6, 32.1 and 26.1 min, indicative that mutant ALDPs are less stable than normal ones. The mutant ALDPs were detectable in fibroblasts cultured with the protease inhibitor E-64 or leupeptin. Protease inhibitor treatment for 2 to 28 days did not affect the amount of very long chain fatty acid (VLCFA), C26:0, or VLCFA β-oxidation activity in ALD fibroblasts. Protease inhibitors therefore suppress the degradation of ALDP but do not correct the impairment of VLCFA metabolism in ALD.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1023/A:1022477001703
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