Nf1 Heterozygous Mice Recapitulate the Anthropometric and Metabolic Features of Human Neurofibromatosis Type 1.

Nf1 Heterozygous Mice Recapitulate the Anthropometric and Metabolic Features of Human Neurofibromatosis Type 1. Transl Res. 2020 Aug 08;: Authors: Tritz R, Benson T, Harris V, Hudson FZ, Mintz J, Zhang H, Kennard S, Chen W, Stepp DW, Csanyi G, de Chantemèle EJB, Weintraub NL, Stansfield BK Abstract Neurofibromatosis type 1 (NF1) is a heritable cancer predisposition syndrome resulting from mutations in the NF1 tumor suppressor gene. Genotype-phenotype correlations for NF1 are rare due to the large number of NF1 mutations and role of modifier genes in manifestations of NF1; however, emerging reports suggest that persons with NF1 display a distinct anthropometric and metabolic phenotype featuring short stature, low body mass index (BMI), increased insulin sensitivity, and protection from diabetes. Nf1 heterozygous (Nf1+/-) mice accurately reflect the dominant inheritance of NF1 and are regularly employed as a model of NF1. Here, we sought to identify whether Nf1+/- mice recapitulate the anthropometric and metabolic features identified in persons with NF1. Littermate 16-20 week-old male wildtype (WT) and Nf1+/- C57B/6J mice underwent nuclear magnetic resonance (NMR), indirect calorimetry, and glucose/insulin/pyruvate tolerance testing. In some experiments, tissues were harvested for NMR and histologic characterization. Nf1+/- mice are leaner with significantly reduced visceral and subcutaneous fat mass, which corresponds with an increas...
Source: Translational Research : the journal of laboratory and clinical medicine - Category: Laboratory Medicine Authors: Tags: Transl Res Source Type: research