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Related Experiment Videos

Mutational analysis of patients with X-linked adrenoleukodystrophy

F Kok1, S Neumann, C O Sarde

  • 1Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.

Human Mutation
|January 1, 1995
PubMed
Summary

Mutations in the newly identified adrenoleukodystrophy (ALD) gene cause this X-linked neurodegenerative disorder. Genetic analysis revealed mutations in all ALD patients studied, confirming the gene

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Area of Science:

  • Genetics
  • Neurodegenerative Disorders
  • Biochemistry

Background:

  • Adrenoleukodystrophy (ALD) is an X-linked neurodegenerative disorder.
  • It is characterized by elevated very long chain fatty acid (VLCFA) levels and reduced peroxisomal VLCFA-CoA ligase activity.
  • A putative gene encoding the ATP-binding cassette (ABC) transporter protein ALDP was recently identified for ALD.

Purpose of the Study:

  • To investigate mutations in the putative ALD gene in patients with adrenoleukodystrophy.
  • To establish a definitive genetic link between mutations in this gene and the development of ALD.

Main Methods:

  • Genomic DNA analysis of ALD probands.
  • Southern blot analysis to detect large deletions.
  • Single Strand Conformation Polymorphism (SSCP) and DNA sequencing to identify point mutations and smaller alterations.

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Main Results:

  • Large deletions in the carboxyl-terminal portion of the ALD gene were found in 4 out of 112 probands.
  • Mutations were detected in all ALD probands analyzed (25/25) using SSCP and sequencing.
  • Mutations were distributed throughout the gene, including missense and frameshift types, with no clear genotype-phenotype correlation.

Conclusions:

  • The identified gene is indeed the ALD gene, as mutations within it cause the disorder.
  • Genetic analysis confirms mutations in the putative ALD gene are responsible for adrenoleukodystrophy.
  • The findings support the role of the ALDP protein, an ABC transporter, in the pathophysiology of ALD.