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Gene-gene and gene-environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants
M F Broekema1, D B Savage2, H Monajemi3
1Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.
Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids
|February 12, 2019
Summary
Monogenic lipodystrophies cause adipose tissue (AT) loss, leading to insulin resistance. Gene-environment interactions affecting PPARG are key to understanding the spectrum of familial partial lipodystrophy type 3 (FPLD3) phenotypes.
Area of Science:
- Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Monogenic lipodystrophies are rare genetic disorders characterized by adipose tissue (AT) deficiency.
- These conditions predispose individuals to severe insulin resistance and metabolic complications.
- The degree of AT loss, from partial to generalized, correlates with metabolic severity.
Purpose of the Study:
- To explore gene-gene and gene-environment interactions influencing PPARG expression and activity in AT.
- To elucidate mechanisms contributing to the phenotypic heterogeneity observed in familial partial lipodystrophy type 3 (FPLD3).
- To enhance the molecular understanding of AT dysfunction in lipodystrophies.
Main Methods:
- Review and synthesis of genetic and environmental factors impacting PPARG.
- Analysis of interactions critical for PPARG function in adipose tissue.
- Discussion of how these interactions explain FPLD3 phenotypic variability.
Main Results:
- PPARG mutations are a significant cause of FPLD3, showcasing disease heterogeneity.
- Gene-gene and gene-environment interactions critically regulate PPARG expression and activity.
- These interactions are proposed to underlie the diverse FPLD3 phenotypes.
Conclusions:
- Understanding PPARG regulation by interacting factors is crucial for FPLD3.
- Similar mechanisms may contribute to other lipodystrophy types.
- Elucidating these pathways advances knowledge of adipose tissue dysfunction.
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