Project 171325

Neuronal functions of the ATRX mental retardation gene.

171325

Neuronal functions of the ATRX mental retardation gene.

$785,991
Project Information
Study Type: Other Mechanistic_Study
Therapeutic Area: Genetics
Research Theme: Biomedical
Disease Area: mental retardation
Data Type: Canadian
Institution & Funding
Principal Investigator(s): Bérubé, Nathalie G
Institution: University of Western Ontario
CIHR Institute: Genetics
Program: Operating Grant
Peer Review Committee: Molecular & Cellular Neurosciences - B
Competition Year: 2008
Term: 5 yrs 0 mth
Abstract Summary

The central nervous system is generated from very few neurons (nerve cells) and attaining normal size and cell type diversity of this system requires tight control of how cells divide. Mutations in the ATRX gene cause mental retardation in humans, but it is not known why this occurs or what the normal function of ATRX in the brain is. We have shown that the absence of ATRX protein in the brain of mice causes a reduction in the number of neurons and consequently a smaller brain. We have also determined that ATRX is required for the division of neural cells into two daughter cells, a process called mitosis. We propose to investigate the causes and outcomes of defective mitosis in the developing brain of mice that lack the ATRX protein. This work will provide exciting new insights into the cause of learning disabilities that result from ATRX gene mutations in humans as well as contribute to a greater understanding of brain development in general.

Research Characteristics

This project includes the following research characteristics:

Knowledge Translation Focus
Biomarker Endpoints
Rare Disease
Study Justification

"We propose to investigate the causes and outcomes of defective mitosis in the developing brain of mice that lack the ATRX protein."

Novelty Statement

"This work will provide exciting new insights into the cause of learning disabilities that result from ATRX gene mutations in humans as well as contribute to a greater understanding of brain development in general."

Methodology Innovation

investigating the role of the ATRX gene in neuronal development and mitosis using a mouse model

Keywords
Chromatin Remodeling Cognitive Disabilities Mitosis Nervous System Neuronal Death Progenitor Division