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A missense mutation in human fatty acid amide hydrolase associated with problem drug use

Academic Article
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Overview

related to degree

  • Chiang, Kyle Ping, Ph.D. in Macromolecular and Cellular Structure and Chemistry, Scripps Research 2001 - 2006

authors

  • Sipe, J. C.
  • Chiang, Kyle Ping
  • Gerber, A. L.
  • Beutler, Ernest
  • Cravatt, Benjamin

publication date

  • June 2002

journal

  • Proceedings of the National Academy of Sciences of the United States of America  Journal

abstract

  • Problem drug use and dependence are neurobehavioral disorders of complex origin. Although environmental factors contribute to drug abuse and addiction, genetic factors also play a significant role estimated at 40-60% of the total risk. Nonetheless, the precise identities of human genes that confer vulnerability to problem drug use remain mostly unknown. Here, we describe a natural single nucleotide polymorphism in the human gene that encodes the principal endocannabinoid-inactivating enzyme, fatty acid amide hydrolase (FAAH), that in homozygous form is strongly associated with both street drug use and problem drug/alcohol use. This single nucleotide polymorphism results in a missense mutation (385C-->A) that converts a conserved proline residue to threonine (Pro129-->Thr), producing a FAAH variant that displays normal catalytic properties but an enhanced sensitivity to proteolytic degradation. Collectively, these results suggest that genetic mutations in FAAH may constitute important risk factors for problem drug use and support a potential link between functional abnormalities in the endogenous cannabinoid system and drug abuse and dependence.

subject areas

  • Alcohol Drinking
  • Amidohydrolases
  • Animals
  • Cannabinoid Receptor Modulators
  • Catalysis
  • Circular Dichroism
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Genotype
  • Humans
  • Illicit Drugs
  • Mutation, Missense
  • Odds Ratio
  • Polymerase Chain Reaction
  • Rats
  • Substance-Related Disorders
  • Surveys and Questionnaires
  • Urea
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Identity

PubMed Central ID

  • PMC123078

International Standard Serial Number (ISSN)

  • 0027-8424

Digital Object Identifier (DOI)

  • 10.1073/pnas.082235799

PubMed ID

  • 12060782
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Additional Document Info

start page

  • 8394

end page

  • 8399

volume

  • 99

issue

  • 12

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