Mutations in the Seipin and AGPAT2 Genes Clustering in Consanguineous Families with Berardinelli-Seip Congenital Lipodystrophy from Two Separate Geographical Regions of Brazil

Gomes, Karina Braga; Fernandes, Ana Paula; Ferreira, Alexandre de Aguiar; Pardini, Hermes; Garg, Abhimanyu; Magré, Jocelyne; Pardini, Victor Cavalcanti

doi:10.1210/jc.2003-030415

Cited by 36 publications

(31 citation statements)

References 10 publications

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“…AGPAT2 homozygous or compound heterozygous inactivating mutations cause congenital generalized lipodystrophy, type 1 [56–58]. Subjects with AGPAT2 deficiency lack metabolically active adipose tissue in abdominal and thoracic fat depots, as well as bone marrow, but retain mechanical fat tissue in sites such as the scalp, orbits, palms and soles [59].…”

Section: Critical Physiological Roles For Glycerolipid Synthesis Enmentioning

confidence: 99%

How lipid droplets “TAG” along: Glycerolipid synthetic enzymes and lipid storage

Wang

Airola

Reue

2017

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biolog

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Triacylglycerols (TAG) serve as the predominant form of energy storage in mammalian cells, and TAG synthesis influences conditions such as obesity, fatty liver, and insulin resistance. In most tissues, the glycerol 3-phosphate pathway enzymes are responsible for TAG synthesis, and the regulation and function of these enzymes is therefore important for metabolic homeostasis. Here we review the sites and regulation of glycerol-3-phosphate acyltransferase (GPAT), acylglycerol-3-phosphate acyltransferase (AGPAT), lipin/phosphatidic acid phosphatase (PAP), and diacylglycerol acyltransferase (DGAT) enzyme action. We highlight the critical roles that these enzymes play in human health by reviewing Mendelian disorders that result from mutation in the corresponding genes. We also summarize the valuable insights that genetically engineered mouse models have provided into the cellular and physiological roles of GPATs, AGPATs, lipins and DGATs. Finally, we comment on the status and feasibility of therapeutic approaches to metabolic disease that target enzymes of the glycerol 3-phosphate pathway.

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Section: Critical Physiological Roles For Glycerolipid Synthesis Enmentioning

confidence: 99%

How lipid droplets “TAG” along: Glycerolipid synthetic enzymes and lipid storage

Wang

Airola

Reue

2017

Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biolog

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“…Approximately 250 cases of CGL have been described in the literature. It is ubiquitous to all geographic regions 6 with the highest frequency reported in Brazil 7,8 .…”

Section: Types Of Lipodystrophymentioning

confidence: 99%

Lipodystrophy: pathophysiology and advances in treatment

2010

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Lipodystrophy is a medical condition characterized by complete or partial loss of adipose tissue. Not infrequently, lipodystrophy occurs in combination with pathological accumulation of adipose tissue at distinct anatomical sites. Patients with lipodystrophy suffer from numerous metabolic complications, indicating the importance of adipose tissue as an active endocrine organ. Not only does the total amount but also the appropriate distribution of fat deposits contribute to the metabolic state. Recent genetic and molecular research has improved our understanding of the mechanisms underlying lipodystrophy. Circulating levels of hormones secreted by adipose tissue, such as leptin and adiponectin, are greatly reduced in distinct subsets of patients with lipodystrophy, rationalizing the use of such hormones or agents that increase their circulating levels, such as peroxisome proliferator-activated receptor gamma (PPARγ) agonists, in a subset of patients with lipodystrophy. Other novel therapeutic approaches, including the use of growth hormone (GH) and GH-releasing factors, are also being studied as potential additions to the therapeutic armamentarium. Insights from recent research efforts and clinical trials could potentially revolutionize the treatment of this difficult-to-treat condition.

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“…Particularly signifi cant clusters have been observed in Norway, Brazil, and Lebanon ( 15,16 ). Forty-fi ve years after the fi rst report of CGL, the fi rst genetic locus associated with the syndrome was identifi ed and later found to be in AGPAT2 ( 17,18 ).…”

Section: Identification Of Cgl Genesmentioning

confidence: 99%