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National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

Lipodystrophy and the Metabolic Consequences of Altered Fat Deposition
November 2 – 3, 2006 Bethesda, MD

Agenda Workshop Summary


Thursday, November 2
7:30 a.m. Registration
8:15 a.m. Opening Remarks/Meeting Overview
  Overview of Clinical Syndromes
8:30 a.m. Overview of Clinical Syndromes of Lipodystrophies
Abhimanyu Garg, M.D., University of Texas Southwestern Medical Center at Dallas
  Session I: Genetic Etiologies of Lipodystrophies
Moderator: Abhimanyu Garg, M.D.
9:15 a.m. Genetic Basis of Lipodystrophy and Obesity
Stephen O’Rahilly, M.D., F.R.S., University of Cambridge
9:45 a.m. 1-Acylglycerol-3-Phosphate-O-Acyl Transferase: An Update
Anil K. Agarwal, Ph.D., University of Texas Southwestern Medical Center at Dallas

10:45 a.m. Update on the Role of Lamin A/C in Familial Partial Lipodystrophy
Howard Worman, M.D., Columbia University
11:15 a.m. Pathogenesis of NASH
Anna Mae Diehl, M.D., Duke University Medical Center
11:45 a.m. Hot Topic:
Genetic Etiologies of Berardinelli-Seip Congenital Lipodystrophy

Joycelyne Magre, Ph.D., Faculté de Médecine, Université Pierre et Marie Curie
12:15 p.m. Poster Session
  Session II: Animal Models with Altered Fat Deposition
Moderator: Karen Reue, Ph.D.
2:00 p.m. Lipin and Adiposity
Karen Reue, Ph.D., University of California, Los Angeles
2:30 p.m. FAT-ATTAC Mice:  A Model of Inducible Lipoatrophy
Philipp Scherer, Ph.D., Albert Einstein College of Medicine

3:00 p.m. Phenotypic Characterization of 1-Acylglycerol-3-Phosphate Acyltransferase 2 Deficient Mice:  A Mouse Model of Congenital Generalized Lipodystrophy
Jay D. Horton, M.D., University of Texas Southwestern Medical Center at Dallas
4:00 p.m. Lipodystrophy from Altered Adipose Triacylglycerol Metabolism
Hei Sook Sul, Ph.D., University of California at Berkeley
4:30 p.m. Role of MT1-MMP in 3D Development of WAT
Stephen J. Weiss, M.D., University of Michigan
5:00 p.m. Hot Topic:
Adipositis in the aP2-nSREBP-1c Mouse Model of Lipodystrophy

Laura Herrero, Ph.D., and Ali Nayer, M.D., Joslin Diabetes Center, Harvard Medical School, Boston
5:30 p.m. Adjourn
Friday, November 3
7:30 a.m. Registration
  Session III: Clinical Investigations
Moderator: Phillip Gorden, M.D.

8:30 a.m. Adipose Tissue as an Endocrine Organ: The Role of Leptin Therapy in the Treatment of Lipodystrophy
Phillip Gorden, M.D., National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health
9:00 a.m. Metabolic Alterations in HIV-Lipodystrophy: Clinical Consequences and Potential Treatment Strategies
Steven Grinspoon, M.D., Massachusetts General Hospital
9:30 a.m. Pathophysiology of Lamin and HIV-Related Lipodystrophies: Common Mechanisms
Jacqueline Capeau, M.D., Ph.D., Faculté de Médecine, Université Pierre et Marie Curie
  Session IV: The Life Cycle of the Adipocyte
Moderator: Bruce Spiegelman, Ph.D.
10:30 a.m. Role of PGC1α in Regulation of Metabolism
Bruce Spiegelman, Ph.D., Dana-Farber Cancer Institute/Harvard Medical Center
11:00 a.m. Adipocyte Apoptosis and Regulation of Fat Cell Mass
Clifton Baile, Ph.D., University of Georgia
11:30 a.m. C.elegans Fat Regulatory Networks
Kaveh Ashrafi, Ph.D., University of California, San Francisco
1:15 p.m. Sympathetic and Sensory Nerve Regulation of Adipose Tissue Growth
Timothy Jon Bartness, Ph.D., Georgia State University
1:45 p.m. The β-Catenin Antagonist Chibby Promotes Adipocyte Differentiation
Ken-Ichi Takemaru, Ph.D., State University of New York at Stony Brook
2:15 p.m. Elongation Factor 1A-1 in Lipotoxic Cell Death
Jean Schaffer, M.D., Washington University School of Medicine
2:45 p.m. Hot Topic:
PPARγldi: A Novel Mouse Model of Conditional Lipodystrophy

Yaacov Barak, Ph.D., The Jackson Laboratory
3:15 p.m. Closing Remarks
3:30 p.m. Adjourn

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Dr. Phil Smith (co-director, Office of Obesity Research, NIDDK) introduced the meeting, noting that the primary objective of the workshop was to stimulate research that will translate basic cell biological, genetic, and molecular findings about proteins and lipids regulating fat mass and fat deposition into potential therapies for genetic and acquired lipodystrophies and related rare diseases.  The first international workshop on lipodystrophy co-sponsored by the NIDDK and the Office of Rare Diseases was held in March 2001.  During the 5-year period following this first meeting, tremendous progress has been made in understanding some of the previously unknown proteins and molecular pathways that are defective in rare diseases such as Berardinelli-Seip syndrome, congenital generalized lipodystrophy, Lawrence syndrome, Barraquer-Simons syndrome, familial partial lipodystrophy (Dunnigan, Kobberling, and mandibuloacral dysplasia variety), and SHORT (short stature-hyperextensibility-Rieger anomaly-teething delay) syndrome.

The meeting was well-attended, with 110 participants.  The audience included clinicians, clinical researchers, and basic scientists at all career levels from the United States and several foreign academic institutions, the NIH, and the private sector.  This venue was a wonderful opportunity to unite researchers interested in understanding the molecular mechanisms that are disrupted in syndromes of lipodystrophy with geneticists, clinical investigators, and clinicians working with patients with these rare diseases and to encourage young students, talented postdoctoral fellows, and new faculty to investigate lipodystrophy syndromes.
On the first morning, speakers focused on the genetic etiologies of lipodystrophies, beginning with Abhimanyu Garg’s (UT Southwestern) introductory overview of the clinical syndromes of lipodystrophies.  The morning session ended with an exciting hot topic presentation by Joycelyne Magre, who described a new Berardinelli-Seip congenital lipodystrophy locus (BSCL3).  Mutations in the BSCL3 gene, which encodes caveolin-1, were shown to be strongly associated with the syndrome.  Researchers are now working to understand how mutations in caveolin-1 lead to BSCL in certain families.  Following an exciting and well-attended poster session, the afternoon speakers talked about five animal models with altered fat deposition.  Generation and study of these models of lipodystrophies have provided significant insights into the molecular pathways that are important for regulating the life cycle of the adipocyte and fat cell mass.

The second morning was devoted to talks about clinical studies.  Phil Gorden (NIDDK) focused on the use of leptin therapy in the treatment of lipodystrophy, and Steve Grinspoon (MGH) and Jacqueline Capeau (Université Pierre et Marie Curie) on treatment strategies for HIV-related lipodystrophies.   The final series of presentations focused on different aspects of the life cycle of the adipocytes in cell systems and in mice.  Kaveh Ashrafi (UCSF) also spoke about how C.elegans can be easily manipulated and used to determine the regulatory networks controlling fat deposition that are also likely to be operating in humans.

In all, there were 22 scientific talks, 4 of which were selected from abstracts submitted by junior investigators.  Twenty-six posters were presented at an active and crowded poster session.  Five junior investigators who presented posters also received travel awards to help defray the costs of attending the meeting. 

The abstract book for the meeting will be available on the NIDDK Web site at:  

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Last Reviewed: January 25, 2006
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