ADRENOLEUKODYSTROPHY TREATMENTS AND DRUG SCREENING

摘要

4-phenylbutyrate treatment of cells from both X-ALD patients and X-ALD knockout mice results in decreased levels of and increased .beta.-oxidation of very-long-chain fatty acids; increased expression of the peroxisomal protein ALDRP; and induction of peroxisome proliferation. ALDP and ALDRP are functionally related, and ALDRP cDNA can complement X-ALD fibroblasts. Dieta ry 4-phenylbutyrate treatment is effective, producing a substantial reduction o f very-long-chain fatty acid levels in the brain and adrenal glands of X-ALD mice.