Washington, Mar 6 (ANI): A new discovery University of Montreal researchers could improve our understanding of many disorders such as foetal and childhood growth retardation, abnormal development of body parts and cancer.
By working with Canadians of French ancestry who suffer a rare genetic disease, researchers have discovered how three genes contribute to abnormal growth.
"As a result of the Human Genome Project, we know the basic identity of essentially all the genes in the human body, but we don't automatically know what they do in detail," explained lead researcher Dr. Mark Samuels.
"Working with people who have specific health or development problems linked to specific genes enables us to see how those genes contribute to our bodies' development and functioning."
The genes are called ORC1L, ORC4L and CDT1, and are known to play a critical role in correct copying of DNA.
In patients with the rare genetic disorder MGS (Meier-Gorlin Syndrome), different patients surprisingly seem to carry mutations in any of three different genes.
"This seems to be the first example of any naturally occurring, inherited mutations identified in this set of important regulatory genes in any mammal.
Finding the genes is a great example of the value of this type of research," Samuels said. "We learn the cause of the disease, and discover new things about our cellular function. However we still have a lot to learn about why mutations in these genes lead to the specific consequences in Meier-Gorlin patients."
"Understanding rare genetic conditions like MGS is important to the general public for two reasons," Samuels said.
"Firstly, they provide insight into how our genes, and therefore our bodies, work. Secondly, although there are few people concerned for each particular disorder, in sum all patients with genetic conditions consume substantial amounts of health resources, and by diagnosing them more quickly, we can improve patient management and reduce the strain on the health care system."
These findings were published in the same issue of Nature Genetics. (ANI)
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