Scientists have discovered a genetic mutation responsible for a rare medical condition that strips sufferers of body fat.
As the malady also raises blood fat levels and insulin resistance, both major causes of coronary heart disease and diabetes, the research has significant implications in understanding these afflictions.
Partial lipodystrophy is an inherited condition that develops in puberty and prevents the body from storing fat under the skin on the trunk and limbs. The condition can be psychologically distressing and cause other associated health problems.
In collaboration with experts in Germany and the Netherlands, researchers at Leicester University in the UK, have screened blood samples from a large number of families affected by lipodystrophy. They found that all family members with the condition had the same mutation of a single gene known as LMNA. As well as opening the way for the development of a simple screening test, researchers may have a vital clue in the search for explanations of, and treatments for, high blood fats and insulin resistance. The findings will contribute to diabetic research and coronary heart disease.
