In what is being hailed as a spectacular piece of medical detective work, an international team of scientists has mapped a special gene defect that plays a critical role in the development of Type 2 diabetes — effectively cracking the genetic code for the metabolic disorder.
"We have found a gene variant in the population of Greenland which markedly increases the risk of developing Type 2 diabetes. The gene variant is only found in Greenlanders and explains 15 percent of cases of diabetes in the country," explained Torben Hansen from the University of Copenhagen.
The researchers noted the findings help deepen scientists' understanding of the genetic links to diabetes and have significant implications for diabetics elsewhere.
The Danish team analyzed the 5,000 blood samples for 250,000 gene variants that play a role in metabolic diseases such as diabetes, obesity, and cardiovascular disease.
They found a particular defect of the so-called TBC1D4 gene hinders the uptake of blood sugar by muscle cells, which use glucose as fuel. As a result, individuals with the defect may experience higher blood sugar levels after a meal.
Sixty percent of the test individuals who have inherited the gene variant from both their mother and their father have Type 2 diabetes. For those over 60, the figure is 80 percent, the researchers said.
The researchers now plan to examine whether the gene defect also raises the risk of cardiovascular disease.
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