Human-Relevant Model of Rare Genetic Disorder Offers Insights into Brain Development

The Physicians Committee
DONATE
 
BREAKING RESEARCH NEWS September 22, 2017

Human-Relevant Model of Rare Genetic Disorder Offers Insights into Brain Development

September 22, 2017

lissenchephaly

Image Source

Study in a Sentence: Researchers used brain cell cultures derived from reprogrammed skin cells of patients with lissencephaly, a rare inherited brain disorder characterized by severe developmental delay and a smooth rather than folded brain surface structure, to identify the developmental defect in the brain cells harboring the genetic mutation that causes the disease.

Healthy for Humans: The researchers found the patient-derived brain cells carrying the mutation matured more slowly and had problems with mobility, which impairs their ability to reach the correct brain site. This study provides novel insights into the disease mechanism, which is potentially important for developing therapeutic strategies for lissencephaly. 

Redefining Research: Animal models with the genetic mutation do not mimic the human disease, and donor tissue is scarce due to the rarity of the disease. Thus, this cellular model of lissenchephaly derived from patients increases the opportunity to study and find human-relevant insights about mechanisms of the disease and brain development in general. This technique can be adapted to study other human genetic diseases of the brain.

Shahsavani M, Pronk R, Falk F, et al. An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis. Mol Psychiatry. Published online September 19, 2017. doi: 10.1038/mp.2017.175.

Subscribe to the Physicians Committee’s Breaking Research News.

Breaking Research News is a service of the Physicians Committee for Responsible Medicine, 5100 Wisconsin Ave., Ste. 400, Washington, DC 20016, 202-686-2210. Join the Physicians Committee and receive the quarterly magazine, Good Medicine.

Breaking Research News Topics:
Breaking Research News Archive:
2017 (42)
2016 (53)
2015 (53)
2014 (18)