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Paradoxical dominant negative activity of an immunodeficiency-associated activating variant.
Elife
January 2025
The University of Cambridge Metabolic Research Laboratories, Wellcome Trust-MRC Institute of Metabolic Science, Cambridge, United Kingdom.
encodes three regulatory subunits of class IA phosphoinositide 3-kinase (PI3K), each associating with any of three catalytic subunits, namely p110α, p110β, or p110δ. Constitutional mutations cause diseases with a genotype-phenotype relationship not yet fully explained: heterozygous loss-of-function mutations cause SHORT syndrome, featuring insulin resistance and short stature attributed to reduced p110α function, while heterozygous activating mutations cause immunodeficiency, attributed to p110δ activation and known as APDS2. Surprisingly, APDS2 patients do not show features of p110α hyperactivation, but do commonly have SHORT syndrome-like features, suggesting p110α hypofunction.
View Article and Find Full Text PDF[A rare case of PIK3R1 gene mutation associated SHORT syndrome].
Zhonghua Nei Ke Za Zhi
January 2025
Department of Endocrinology, Hainan General Hospital, Hainan Affiliated Hospital of Hainan Medical University, Haikou570311, China.
The Causal Role of Ectopic Fat Deposition in the Pathogenesis of Metabolic Syndrome.
Int J Mol Sci
December 2024
Department of Internal Medicine, Erasmus Medical Center (Erasmus MC), Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Consuming a "modern" Western diet and overnutrition may increase insulin secretion. Additionally, nutrition-mediated hyperinsulinemia is a major driver of ectopic fat deposition. The global prevalence of metabolic syndrome is high and growing.
View Article and Find Full Text PDFLoss of Mfn1 but not Mfn2 enhances adipogenesis.
PLoS One
December 2024
Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge, United Kingdom.
Objective: A biallelic missense mutation in mitofusin 2 (MFN2) causes multiple symmetric lipomatosis and partial lipodystrophy, implicating disruption of mitochondrial fusion or interaction with other organelles in adipocyte differentiation, growth and/or survival. In this study, we aimed to document the impact of loss of mitofusin 1 (Mfn1) or 2 (Mfn2) on adipogenesis in cultured cells.
Methods: We characterised adipocyte differentiation of wildtype (WT), Mfn1-/- and Mfn2-/- mouse embryonic fibroblasts (MEFs) and 3T3-L1 preadipocytes in which Mfn1 or 2 levels were reduced using siRNA.
A woman with multifocal lipodystrophy in unilateral trunk and extremities.
Neuro Endocrinol Lett
November 2024
First Affiliated Hospital of Kunming Medical University, Kunming, China.
Article Synopsis
- Adipose dystrophy (lipodystrophy) involves the loss of fat tissue, potentially causing fat to accumulate in other body areas and leading to metabolic issues like insulin resistance and liver disease.
- The condition is linked to several gene mutations and can be either congenital or acquired, presenting in different forms.
- This report details a rare case of localized lipodystrophy with normal development and partial fat atrophy, aimed at improving clinicians' knowledge of this uncommon disease.
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