نتایج جستجو برای: agpat2 mutation

تعداد نتایج: 291444  

Journal: :JIMD reports 2013
N Ramanathan M Ahmed E Raffan C L Stewart S O'Rahilly R K Semple H Raef J J Rochford

Loss-of-function mutations in AGPAT2, encoding 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2), produce congenital generalised lipodystrophy (CGL). We screened the AGPAT2 gene in two siblings who presented with pseudoacromegaly, diabetes and severe dyslipidaemia and identified a novel mutation in AGPAT2 causing a single amino acid substitution, p.Cys48Arg. We subsequently investigated t...

BackgroundCongenital generalized lipodystrophy (CGL) is a rare disease. It is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.Case PresentationWe report a 25- year- old female with 1-Acylglycerol-3-phosphate-O-acyltransferase 2 (APGAT2) mutation, and both sclerotic and lytic bone lesions together for the first time. Bone cyst i...

2014
Víctor A. Cortés Susan V. Smalley Denisse Goldenberg Carlos F. Lagos María I. Hodgson José L. Santos

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by extreme reduction of white adipose tissue (WAT) mass. CGL type 1 is the most frequent form and is caused by mutations in AGPAT2. Genetic and clinical studies were performed in two affected sisters of a Chilean family. These patients have notoriously dissimilar metabolic abnormalities that correlat...

Journal: :Diabetes 2003
Jocelyne Magré Marc Delépine Lionel Van Maldergem Jean-Jacques Robert J Antonie Maassen Muriel Meier Vanessa R Panz Chong Ae Kim Nadia Tubiana-Rufi Paul Czernichow Eva Seemanova Charles R Buchanan Didier Lacombe Corinne Vigouroux Olivier Lascols C Ronald Kahn Jacqueline Capeau Mark Lathrop

Berardinelli-Seip congenital lipodystrophy (BSCL) is a heterogeneous genetic disease characterized by near absence of adipose tissue and severe insulin resistance. We have previously identified mutations in the seipin gene in a subset of our patients' cohort. Recently, disease-causing mutations in AGPAT2 have been reported in BSCL patients. In this study, we have performed mutation screening in...

Journal: :international journal of pediatrics 0
shirin hasani-ranjbar obesity and eating habits research center, endocrinology and metabolism molecular-cellular sciences institute, tehran university of medical sciences, tehran, iran. akbar soltani endocrinology and metabolism research center, endocrinology and metabolism clinical sciences institute, tehran university of medical sciences, tehran, iran. marzieh hadavi endocrinology and metabolism research center, endocrinology and metabolism clinical sciences institute, tehran university of medical sciences, tehran, iran. hanieh-sadat ejtahed obesity and eating habits research center, endocrinology and metabolism molecular-cellular sciences institute, tehran university of medical sciences, tehran, iran. mahsa mohammad-amoli metabolic disorders research center, endocrinology and metabolism molecular-cellular sciences institute, tehran university of medical sciences, tehran, iran. amir reza radmard department of radiology, shariati hospital, tehran university of medical sciences, tehran, iran.

backgroundcongenital generalized lipodystrophy (cgl) is a rare disease. it is associated with near total fat loss, severe insulin resistance and hypoleptinemia leading to metabolic derangements.case presentationwe report a 25- year- old female with 1-acylglycerol-3-phosphate-o-acyltransferase 2 (apgat2) mutation, and both sclerotic and lytic bone lesions together for the first time. bone cyst i...

2012
Angela R. Subauste Arun K. Das Xiangquan Li Brandon Elliot Charles Evans Mahmoud El Azzouny Mary Treutelaar Elif Oral Todd Leff Charles F. Burant

Congenital generalized lipodystrophy (CGL), secondary to AGPAT2 mutation is characterized by the absence of adipocytes and development of severe insulin resistance. In the current study, we investigated the adipogenic defect associated with AGPAT2 mutations. Adipogenesis was studied in muscle-derived multipotent cells (MDMCs) isolated from vastus lateralis biopsies obtained from controls and su...

2012
Amirreza Haghighi Maryam Razzaghy-Azar Ali Talea Mahnaz Sadeghian Sian Ellard Alireza Haghighi

Congenital generalized lipodystrophy (CGL) is an autosomal recessive disease characterized by the generalized scant of adipose tissue. CGL type 1 is caused by mutations in gene encoding 1-acylglycerol-3-phosphate O-acyltransferase-2 (AGPAT2). A clinical and molecular genetic investigation was performed in affected and unaffected members of two families with CGL type 1. The AGPAT2 coding region ...

2016
Kelly M. Cautivo Carlos O. Lizama Pablo J. Tapia Anil K. Agarwal Abhimanyu Garg Jay D. Horton Víctor A. Cortés

OBJECTIVE Characterize the cellular and molecular events responsible for lipodystrophy in AGPAT2 deficient mice. METHODS Adipose tissue and differentiated MEF were assessed using light and electron microscopy, followed by protein (immunoblots) and mRNA analysis (qPCR). Phospholipid profiling was determined by electrospray ionization tandem mass spectrometry (ESI-MS/MS). RESULTS In contrast ...

2015
Md. Mesbah Uddin Talukder M.F. Michelle Sim Stephen O'Rahilly J. Michael Edwardson Justin J. Rochford

OBJECTIVE Disruption of the genes encoding either seipin or 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) causes severe congenital generalized lipodystrophy (CGL) in humans. However, the function of seipin in adipogenesis remains poorly defined. We demonstrated recently that seipin can bind the key adipogenic phosphatidic acid (PA) phosphatase lipin 1 and that seipin forms stable dode...

2013
Obaid Ur Rahman Nadeem Khawar Muhammad Aman Khan Jawad Ahmed Kamran Khattak Jumana Yousuf Al-Aama Muhammad Naeem Musharraf Jelani

BACKGROUND Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2...

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