Genetic and Metabolic Basis of Familial Partial Lipodystrophy
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Lipodystrophy, Familial Partial
- Sponsor
- Mayo Clinic
- Enrollment
- 12
- Locations
- 1
- Primary Endpoint
- Upper body muscle strength measured by chest press dynamometry
- Status
- Completed
- Last Updated
- 4 years ago
Overview
Brief Summary
Studying patients with rare adipose tissue disorders may help the investigators to better understand the pathophysiology of diabetes and dyslipidemia in relation to adiposity, and thus have an enormous impact on public health.
Detailed Description
A systematic study of body fat distribution is necessary to better define the phenotypic spectrum of FPL, and to better recognize FPL in patients with Metabolic Syndrome. Similarly, genetic studies in these patients will not only help better characterize the genotype-phenotype relationship, but is also likely to help identify other genes involved in regulation of lipid homeostasis, as some patients may not have any of the known mutations. The Investigators will systematically study mitochondrial protein quality and function under fasting and fed state in relation to intramyocellular and circulating plasma lipid levels, and compare with age, sex and BMI-matched individuals. The Investigators will also study the rate of de-novo protein synthesis to determine if hyperinsulinemia affects both muscle protein anabolism and catabolism.
Investigators
Vinaya Simha, M.B.B.S., M.D.
PI
Mayo Clinic
Eligibility Criteria
Inclusion Criteria
- •Clinical diagnosis of lipodystrophy (decreased subcutaneous fat)
- •Family history of lipodystrophy
- •Normal control subject
Exclusion Criteria
- •Inability to provide informed consent
- •Hemoglobin \< 10g%
Outcomes
Primary Outcomes
Upper body muscle strength measured by chest press dynamometry
Time Frame: Before consumption of a high fat mixed meal
Change in fractional mitochondrial protein synthesis rates
Time Frame: Before and after consumption of a high fat mixed meal (approximately 4 hours after the meal)
Lower body muscle strength measured by knee extension
Time Frame: Before consumption of a high fat mixed meal