Two very lean mice heterozygous for a mutation in FBN1 found in a patient with neonatal progeroid syndrome (left), with two wild-type mice (right). All four mice have been fed a high fat diet for three months.NATURE MEDICINE, 2017, C. DUERRSCHMID ET AL.Two people with a rare genetic disorder have helped shed light on the fundamental neuroscience of appetite and, scientists say, opened up a new target for potential obesity treatments. Neonatal progeroid syndrome (NPS) affects only a handful of people worldwide. The most telling features of the condition are an aged appearance due to an absence of the fat layer under the skin and extreme thinness.
Researchers report in in Nature Medicine today (November 6) that a glucose-releasing hormone involved in the disease crosses the blood-brain barrier and homes in on neurons that regulate appetite in mice. The study suggests it might be possible to target the hormone, asprosin, in the treatment of diabetes and obesity.
“Rare diseases with extreme phenotypes like this are very valuable to learn important things that then apply to more common diseases,” says coauthor and medical geneticist Atul Chopra of Baylor College of Medicine in Houston, Texas.
It’s fascinating to find something that appears to be a major new hormone in energy homeostasis from studying patients first, rather than mouse models.—Roger Cone,
University of Michigan
Chopra and colleagues showed in a previous study that patients with ...
