Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

N-acetylator variability in Down's syndrome: characterization with caffeine.

M E Morris1, J C Griener, M E Msall

  • 1Department of Pharmaceutics, State University of New York Buffalo, Amherst, 14260.

Clinical Pharmacology and Therapeutics
|September 1, 1989
PubMed
Summary

This study found that individuals with Down's syndrome exhibit similar N-acetylation phenotypes, as measured by caffeine metabolism, compared to control groups. This indicates no significant difference in this drug metabolism pathway between the two populations.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Implementing falls prevention patient education in hospitals - older people's views on barriers and enablers.

BMC nursing·2024
Same author

Educating health professionals to implement evidence-based falls screening in hospitals.

Nurse education today·2021
Same author

Educating health professionals to optimise falls screening in hospitals: protocol for a mixed methods study.

BMC health services research·2020
Same author

JNK activation and translocation to mitochondria mediates mitochondrial dysfunction and cell death induced by VDAC opening and sorafenib in hepatocarcinoma cells.

Biochemical pharmacology·2019
Same author

White Matter Injury and General Movements in High-Risk Preterm Infants.

AJNR. American journal of neuroradiology·2016
Same author

Monocarboxylate Transporters: Therapeutic Targets and Prognostic Factors in Disease.

Clinical pharmacology and therapeutics·2016

Area of Science:

  • Pharmacogenetics
  • Clinical Pharmacology
  • Human Genetics

Background:

  • Drug biotransformation in Down's syndrome is poorly understood.
  • N-acetylation, a genetically variable metabolic pathway, has not been previously studied in this population.

Purpose of the Study:

  • To compare N-acetylation phenotypes in individuals with Down's syndrome and age-matched controls.
  • To investigate caffeine as a pharmacologic probe for assessing acetylator status.

Main Methods:

  • 22 individuals with Down's syndrome and 22 controls ingested caffeine.
  • Urinary samples were collected at 2 and 4 hours post-ingestion.
  • The ratio of 5-acetylamino-6-amino-3-methyluracil (AAMU) to 1-methylxanthine (1X) was analyzed.

Related Experiment Videos

Main Results:

  • Urinary AAMU/1X ratios were highly correlated between 2- and 4-hour samples (r=0.82).
  • Reproducibility of the AAMU/1X ratio in subjects with Down's syndrome was comparable to controls.
  • A trimodal distribution of acetylator phenotypes was observed with no significant differences between groups.

Conclusions:

  • N-acetylation status, assessed via caffeine metabolism, is similar in individuals with Down's syndrome and controls.
  • Polymorphic N-acetylation does not appear to differ between these populations.
  • This suggests comparable drug metabolism pathways regarding N-acetylation in Down's syndrome.