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

Adenylosuccinate lyase deficiency.

Erin K Spiegel1, Roberta F Colman, David Patterson

  • 1Eleanor Roosevelt Institute at University of Denver, Denver, CO, USA. erin.spiegel@uchsc.edu <erin.spiegel@uchsc.edu>

Molecular Genetics and Metabolism
|July 15, 2006
PubMed
Summary

Adenylosuccinate lyase deficiency (ADSL) is a purine metabolism disorder with variable symptoms. A mouse model is crucial for understanding its complex mechanisms and developing future therapies.

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

Thalamic sonication in chronic disorders of consciousness: a mechanistic single-arm clinical trial.

medRxiv : the preprint server for health sciences·2026
Same author

Rotationally Resolved Spectroscopy of a Single Polyatomic Molecule.

Physical review letters·2025
Same author

The influence of crop type on pesticide wash-off parameters for use in environmental fate modelling.

Pest management science·2024
Same author

Collective action and legal mobilisation for the right to health in the climate crisis.

Lancet (London, England)·2024
Same author

Ecotoxicological soil risk assessment under the new soil exposure framework - an impact assessment.

Journal of environmental science and health. Part. B, Pesticides, food contaminants, and agricultural wastes·2024
Same author

Public health role in litigation to address climate change.

European journal of public health·2024

Area of Science:

  • Biochemistry
  • Genetics
  • Neuroscience

Background:

  • Adenylosuccinate lyase deficiency (ADSL) is a rare metabolic disorder affecting purine metabolism.
  • Clinical manifestations are diverse, including psychomotor retardation, autistic features, hypotonia, and seizures.
  • Patients exhibit accumulation of ADSL substrates in bodily fluids, indicating disrupted purine pathways.

Purpose of the Study:

  • To investigate the complex biochemical and genetic factors underlying ADSL.
  • To explore the pathological mechanisms, including potential purine deficiency, intermediate toxicity, or pathway perturbations.
  • To establish a mouse model for in vivo study of ADSL.

Main Methods:

  • Analysis of patient biochemical and genetic data.
  • Identification of novel mutations (E80D and D87E) in a patient with autistic features and psychomotor delay.
  • Development of a mouse model carrying human ADSL-deficient mutations.

Main Results:

  • Identified two novel mutations, E80D and D87E, in the ADSL gene of a patient.
  • Observed variability in ADSL enzyme activity and lack of clear genotype-phenotype correlation in patients.
  • Established a foundation for in vivo studies using a novel mouse model.

Conclusions:

  • The pathogenesis of ADSL is complex and not fully understood.
  • A mouse model is essential for elucidating in vivo disease mechanisms and exploring therapeutic strategies.
  • Further research is needed to clarify the roles of purine metabolism and other pathways in ADSL.

Related Experiment Videos