Ghent researchers discover rare metabolic disorder
Researchers from UZ Gent have identified a rare metabolic disorder that may help improve understanding and treatment of obesity and lipodystrophy, a condition characterised by an abnormal distribution of subcutaneous fat tissue. The medical discovery was published on Thursday in the journal Nature Genetics.
Lipodystrophy originates from a genetic defect. Dr Nika Schuermans from the Center for Medical Genetics at UZ Gent explains that the PLAAT3 gene is the cause of this new metabolic disorder. "PLAAT3 is a protein primarily found in adipose [body fat] and nerve tissues."
The genetic flaw leads to a deficiency of fatty tissue, resulting in the body's reduced ability to store energy. Fats accumulate in the liver and muscle tissue, causing diabetes and fatty liver, similar to the effects of obesity.
"The discovery is a new puzzle piece to gain knowledge about metabolic issues in obesity"
"It is a rare condition, but the discovery is a new puzzle piece to gain knowledge about metabolic issues in obesity, a significant and growing global problem," says neurogeneticist Bart Dermaut.
Patients with lipodystrophy also exhibit prominent neurological symptoms such as neuropathy, a disorder of the nerves in the arms and legs, and intellectual impairment. "Investigating and understanding the mechanisms behind this will be a significant challenge," says neurologist Dimitri Hemelsoet.
Nonetheless, it is an essential step in attributing the consequences of the flaw in the PLAAT3 gene as the cause of these symptoms. To further assist patients, establishing a link between their symptoms and the genetic defect is paramount.
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