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Lipodystrophy and WastingLipodystrophy and Wasting
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Lipodystrophy and Emery-Dreifuss muscular dystrophy
Nov 20, 2002

Dear Dr. Dieterich,

I have Emery-Dreifuss muscular dystrophy and my condition is associated with a marked absence of subcutaneous body fat. However, I have not experienced any facial lipodystrophy. I have an autosomal dominant mutation within the gene, nuclear lamin. (R527P) This mutation alters the receptor for sterol response element binding protein 1 (srebp1), and as a consequence, my binding of srebp1 is reduced by nearly 75. It has been recently discovered that patients on HAART experience a lowering of srebp1 levels, and this is suspected to contribute to lipodystrophy. My question for you is that I am wondering if any researchers have attempted to design a medication that upregulates the levels of srebp1. Could upregulation of srebp1 help to alleviate the lipodystrophy symptoms in patients with nuclear lamin mutations, as well as patients on HAART?

Response from Dr. Dieterich

Good question! I really have no information about that topic. Certainly there is no clinical data about it. It would be a good avenue for the basic scientists to investigate. Maybe someone will see it here and go for it! Thanks for a very intelligent question! DTD

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