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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Group 1: Healthy Subject | Other | Healthy Subject (Control) will undergo assessments before and after ingesting a high fat mixed meal. |
|
| Group 2: FPL Subject | Other | FPL Subject will undergo assessments before and after ingesting a high fat mixed meal. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| High fat mixed meal | Other |
|
| Measure | Description | Time Frame |
|---|---|---|
| Upper body muscle strength measured by chest press dynamometry | Before consumption of a high fat mixed meal | |
| Change in fractional mitochondrial protein synthesis rates | Before and after consumption of a high fat mixed meal (approximately 4 hours after the meal) | |
| Lower body muscle strength measured by knee extension | Before consumption of a high fat mixed meal |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Vinaya Simha, MBBS, MD | Mayo Clinic | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Mayo Clinic | Rochester | Minnesota | 55905 | United States |
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| Label | URL |
|---|---|
| Mayo Clinic Clinical Trials | View source |
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| ID | Term |
|---|---|
| D052496 | Lipodystrophy, Familial Partial |
| D003920 | Diabetes Mellitus |
| D050171 | Dyslipidemias |
| D006946 | Hyperinsulinism |
| ID | Term |
|---|---|
| D000083083 | Laminopathies |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008060 | Lipodystrophy |
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| D012875 | Skin Diseases, Metabolic |
| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008052 | Lipid Metabolism, Inborn Errors |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D044882 | Glucose Metabolism Disorders |
| D004700 | Endocrine System Diseases |