APR 28, 2015 09:13 PM PDT

Gene Associated with Rare Disease Determines How Body Processes Pain

Researchers at the Institut de Recherches Cliniques de Montreal (IRCM) led by Artur Kania, Ph.D., uncovered the critical role in pain processing of a gene associated with a rare disease. Their breakthrough, published in The Journal of Neuroscience, paves the way for a better understanding of chronic pain conditions.
Dr. Kania's team studies the way neural circuits transform harmful stimuli.
Dr. Kania's team studies the way neural circuits transform harmful stimuli (such as cold, heat, and pinch) into the perception of pain. More precisely, they examined the gene Lmx1b and its involvement in pain processing. Mutations in this gene also cause a rare human disease called the Nail-patella syndrome (NPS), which is characterized by limb and kidney malformations. More importantly, NPS patients show reduced pain responses.

"By studying mouse models, we first showed this gene is essential for the survival of neurons and the development of the spinal cord," explains Dr. Kania, Director of the Neural Circuit Development research unit at the IRCM. "We then uncovered that removing the gene only in the spinal cord allows the mice to survive. However, it also results in reduced sensitivity to harmful mechanical (crushing, pinching) and thermal (heat, cold) stimulation."

"We also discovered the missing gene leads to missing neurons, which, in turn, affects the proper development and circuitry of the entire nervous system," says Nora Szabo, Ph.D., postdoctoral fellow in Dr. Kania's laboratory and first author of the study. "In fact, we observed a disruption in the connection between the spinal cord and specific brain centers, which prevents information from being transmitted correctly."

"Our team was the first the study this gene specifically in the spinal cord," adds Ronan V. da Silva, Ph.D. student in the same laboratory and co-author of the article. "Our results demonstrate the critical role of Lmx1b for mechanical and thermal pain processing."

"Seeing as little is currently known about the pain pathways in the nervous system, this breakthrough will help advance our understanding of pain sensation," states Dr. Kania. "Our work also provides invaluable knowledge for the study of chronic pain and other pain conditions."

Source: Institut de Recherches Cliniques de Montreal
About the Author
  • Ilene Schneider is the owner of Schneider the Writer, a firm that provides communications for health care, high technology and service enterprises. Her specialties include public relations, media relations, advertising, journalistic writing, editing, grant writing and corporate creativity consulting services. Prior to starting her own business in 1985, Ilene was editor of the Cleveland edition of TV Guide, associate editor of School Product News (Penton Publishing) and senior public relations representative at Beckman Instruments, Inc. She was profiled in a book, How to Open and Operate a Home-Based Writing Business and listed in Who's Who of American Women, Who's Who in Advertising and Who's Who in Media and Communications. She was the recipient of the Women in Communications, Inc. Clarion Award in advertising. A graduate of the University of Pennsylvania, Ilene and her family have lived in Irvine, California, since 1978.
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