Gene mutation may indicate diabetes risk
Medical research has found that a genetic mutation may be associated with type 2 diabetes in a study published in the Journal of the American Medical Association this month. Type 2 diabetes, a disease that blocks blood sugar from entering cells to supply energy, affects more than 200 million people across the world.Posted — Updated
Type 2 diabetes, a disease that blocks blood sugar from entering cells to supply energy, affects more than 200 million people across the world.
Dr. Arthur Lyons was diagnosed with the disease three years ago, and since then, testing his blood sugar has become part of his daily routine.
"It's something I have to be very well aware of most of the time," Lyons said.
Diabetes is said to have genetic components, which means Lyons' children may also struggle with the disease.
But researchers in California are shedding light on a gene that is absent or mutated in many diabetics.
"For the first time we found a protein that's important and we found that there are defects of this protein in diabetics," said Dr. Ira D. Goldfine of the University of California in San Francisco.
It's called HMGA-1, a gene that makes protein. When it's present, it tells cells to make insulin receptors.
"If you don't have the HGMA-1 gene, then you don't make the insulin receptor and if you don't make the insulin receptor, insulin doesn't work very effectively," Goldfine said.
Researchers analyzed DNA from patients with and without type 2 diabetes over the course of several years. The found a mutation in the HMGA-1 gene in a group of Italian diabetics and then confirmed the finding in American and French patients. Ten percent of these groups had defects in the gene.
Four abnormalities in the gene sequence were identified. In test tube experiments, researchers were able to correct the defect in patients' cells.
"We have a screening test now to identify these people and people who are related to them so we can start treatment and intervention early," Goldfine said.
This news was encouraging for Lyons and his family.
"I'm sure that it would be very important for them to be aware of the high risk and I think this genetic component would be a very, very useful tool," Lyons said.
Researchers also said in the study that better understanding the genetic component could help diabetic patients receive more targeted treatments.
Copyright 2023 JAMA. All rights reserved.