WebJul 11, 2024 · FPLD2 is more readily recognized in women than in men because of the unusual muscular appearance of the extremities in women. There is marked phenotypic … WebMar 22, 2024 · FPLD2 is caused by mutations in LMNA, encoding lamin A/C, a nuclear lamina matrix protein, which may influence adipocyte gene expression and function by multiple mechanisms. Mutations in the key adipocyte transcription factor PPARγ can cause FPLD3. PPARγ functions as a heterodimer with RXRα to control the expression of …
Familial partial lipodystrophy - Wikipedia
WebDisease Overview. Familial partial lipodystrophy type 2 (FPLD2) is a rare, genetic disorder that affects the amount and distribution of fat (adipose tissue) in the body. Symptoms … WebJan 1, 2024 · FPLD2 is characterized by atypical subcutaneous adipose tissue distribution; specifically atrophy of subcutaneous adipose in the trunk and limbs, and excess accumulation of supraclavicular fat [2]. This dearth of subcutaneous adipose tissue drives systemic insulin resistance and hyperinsulinemia, potentiating progression to diabetes … dr richard adler seattle
Lipodystrophy for the Diabetologist—What to Look For
WebMay 5, 2024 · Background: FPLD2, a rare autosomal dominant disorder due to heterozygous missense mutations in LMNA, is characterized by gradual loss of subcutaneous (sc) fat from the limbs starting during late childhood and predisposition to metabolic complications, such as diabetes, dyslipidemia and hepatic steatosis.Some … WebTypes 1 and 2 were originally described as clinical subtypes: type 1 (FPLD1; 608600), characterized by loss of subcutaneous fat confined to the limbs (Kobberling et al., 1975), … WebFPLD2 is caused by mutations in the gene LMNA, encoding the proteins lamin A/C, key structural and DNA-interacting proteins that live in the nuclear lamina. My research in the MacDougald lab seeks to uncover the mechanism of how FPLD2 patients lose their adipose tissue, which will both elucidate future treatments for lipodystrophies and enhance ... dr richard adlin