Brown University researchers led by Dr. Eric Morrow, an associate
professor in the Warren Alpert Medical School, published their study of two
families in Pakistan and Oman whose children suffer from a rare neurological
disease in the Proceedings of the National Academy of Sciences recently.
They traced the disease to a mutation in the GPT2 gene. Mutations in GPT2 result in reduced enzyme activity.
That enzyme appears essential in developing metabolic pathways in the
mitochondria.
When researchers developed and tested mice with a GPT2 enzyme deficiency, they found abnormal brain metabolisms.
The mice showed reduced neural and brain growth, and developed fewer connections
between synapses.
The engineered mice reflected the children's symptoms, with
below-normal brain growth, developmental disabilities and a loss of motor
control. Most of the children were able to walk, but developed spastic paraplegia
as they grew older, resulting in the loss of the ability to walk.
The research team continues to investigate hypotheses
regarding the metabolic pathways and how they regulate brain functions. They
are looking forward to testing methods of intervention to prevent progression
of the children's condition.
Morrow, David Housman at MIT and Ganeshwaran Mochida at Boston
Children's Hospital were the co-corresponding authors. The co-lead authors of
the study were investigator Qing Ouyang of Brown and researcher Tojo Nakayama of
Boston Children's Hospital.
More Stories
- Omnibus package needed to support front-line university research on COVID-19
- AACC president recognized with leadership award
- BERRY COLLEGE: Online Add/Drop for Cleared Returning Students Opens at 8am
- ANDREWS UNIVERSITY: Thoughtful Thursday to be Held January 14
- Ross, Showalter: Education and Employment promise can help future generations survive
- AMERICAN UNIVERSITY: 32nd Annual Ann Ferren Conference
- EASTERN MICHIGAN UNIVERSITY: Michigan Governor Gretchen Whitmer appoints Nathan K. Ford and Dr. Jessie Kimbrough Marshall to the Eastern Michigan University Board of Regents
- EASTER MICHIGAN UNIVERSITY: Read President Smith's Dec. 18 update to campus, which includes information about advising over break and the announcement of two personal wellness days in March
- BERRY COLLEGE: Prayer & Share for Women
- ADTALEM GLOBAL EDUCATION INC.: Adtalem Global Education Named One of America's Most Responsible Companies by Newsweek