Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy

Nat Med. 1998 Nov;4(11):1261-8. doi: 10.1038/3242.

Abstract

As more functional redundancy in mammalian cells is discovered, enhanced expression of genes involved in alternative pathways may become an effective form of gene therapy. X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder with impaired very-long-chain fatty acid metabolism. The X-ALD gene encodes a peroxisomal membrane protein (ALDP) that is part of a small family of related peroxisomal membrane proteins. We show that 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. We also demonstrate that ALDP and ALDRP are functionally related, by ALDRP cDNA complementation of X-ALD fibroblasts. Finally, we demonstrate the in vivo efficacy of dietary 4-phenylbutyrate treatment through its production of a substantial reduction of very-long-chain fatty acid levels in the brain and adrenal glands of X-ALD mice.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / therapy*
  • Animals
  • Cell Line
  • Cells, Cultured
  • DNA Primers
  • Fibroblasts / cytology
  • Fibroblasts / drug effects
  • Genetic Therapy*
  • Humans
  • Lymphocytes / cytology
  • Lymphocytes / drug effects
  • Mice
  • Mice, Knockout
  • Microbodies / drug effects
  • Microbodies / physiology
  • Microbodies / ultrastructure
  • Multigene Family
  • Phenylbutyrates / pharmacology
  • Proteins / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • X Chromosome*

Substances

  • ABCD1 protein, human
  • ABCD2 protein, human
  • ATP Binding Cassette Transporter, Subfamily D
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • DNA Primers
  • Phenylbutyrates
  • Proteins
  • 4-phenylbutyric acid