American scientists have managed to find out five distinct groups of DNA sites with the help of genomic data. The identified DNA sites are believed to be the root cause of distinct forms of type 2 diabetes. This discovery would potentially allow the doctors to prescribe medicines and suggest interventions on the basis of the cause instead of treating the symptoms.
Inherited genetic changes could underlie the variability observed among patients in the clinic, revealed the study that was published in this week’s PLOS Medicine, and the study said that a number of the pathophysiological processes could possibly result in other ailment like high blood sugar.
“When treating type 2 diabetes, we have a dozen or so medications we can use, but after you start someone on the standard algorithm, it’s primarily trial and error,” said the paper’s senior author Jose Florez, an endocrinologist at Massachusetts General Hospital (MGH).
“We need a more granular approach that addresses the many different molecular processes leading to high blood sugar,” said Florez.
The manner in which DNA variations impacted diabetes-related traits, helped the scientists to group the DNA into clusters. For example, the wscie3ntists noted that changes in genes that are related to high triglyceride levels would most likely go through the same process biologically.
A “soft-clustering” approach which permitted each variant to be clustered into more than one cluster was taken by Miriam Udler, an endocrinologist at MGH and postdoctoral researcher in the Florez lab.
“The soft-clustering method is better for studying complex diseases, in which disease-related genetic sites may regulate not just one gene or process, but several,” said Udler.
From within the variations that are currently known to exist for that insulin-deficient and insulin-resistant disease, the researchers identified five clusters of genetic variants which differed in their underlying cellular processes with the help of the new algorithm.
The scientists also noted that two of these clusters had variants which indicate malfunctioning of pancreatic beta cells but they are different in the manner in which they impact the levels of the insulin precursor, proinsulin.
The researchers first calculated the individual genetic risk scores from each cluster after collecting data from, four independent cohorts of patients with type 2 diabetes.
The researchers concluded that almost one third of the patients participating in the study showed high scores for only one type of predominant cluster which indicates that the diabetes that they are suffering from is mainly caused by one singly biological mechanism.
“The clusters from our study seem to recapitulate what we observe in clinical practice,” said Florez. “Now we need to determine whether these clusters translate to differences in disease progression, complications, and response to treatment.”
“This study has given us the most comprehensive view to date of the genetic pathways underlying a common illness,” said Udler.
(Adapted form Xinhuanet.com)