One Mutated Gene Causes Multiple Neurodegenerative Disorders




One Mutated Gene Causes Multiple Neurodegenerative Disorders

A single mutated gene targets cells in the basal ganglia and disrupts the cells’ abilities to function normally.  The gene, HPRT short for Hypoxanthine Guanine Phosphoribosyltransferase,, is considered a “housekeeping gene”, responsible for cellular maintenance and repair. When it is mutated, it affects the neurotransmitter dopamine and dopamine neurons and results in many neurological diseases including Alzheimer’s, PARKINSON’S DISEASE, Lesch-Nyhan, and Huntington’s disease.

Researchers on the study team lead by Theodore Friedmann, M.D., professor of pediatrics at the University of California, San Diego conducted a gene expression study using mouse embryonic stem cells modified to be lacking in HPRT. They found that when HPRT is deficient cells do not develop normally; although they appear as neurons, their functions are impaired.  Some of the impaired functions observed were with cell cycles and replication, RNA metabolism, DNA damage and repair as well as cell signaling.

Results of this study provide preliminary results, showing how a defect in this gene leads to the cellular defects found in many neurological diseases.  Research can now look for ways to target HPRT genetic mutation possibly leading to specific treatments.  It is one of many pathways in the development of neurological disease; the task of future research lies in finding ways to better understand these pathways.

Tae Hyuk Kang, Yongjin Park, Joel S. Bader, Theodore Friedmann. The Housekeeping Gene Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Regulates Multiple Developmental and Metabolic Pathways of Murine Embryonic Stem Cell Neuronal Differentiation.PLoS ONE, 2013; 8 (10): e74967 DOI:10.1371/journal.pone.0074967


reviewed by Marcia McCall

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