The Genetics of Diabetes in Southern California Chinese Americans
| Status: | Completed |
|---|---|
| Conditions: | Endocrine, Diabetes |
| Therapuetic Areas: | Endocrinology |
| Healthy: | No |
| Age Range: | 40 - 65 |
| Updated: | 4/2/2016 |
| Start Date: | January 2006 |
| End Date: | November 2010 |
| Contact: | Julia Platt, MS |
| Email: | jplatt@uci.edu |
| Phone: | 949-824-9232 |
Mitochondria and Metabolic Syndrome in a Southern California Chinese Cohort
The purpose of this research study is to investigate the genetic causes of diabetes.
Specifically, we are interested in the mitochondrial genome and how variants in the
mitochondrial genome influence a person's risk to develop diabetes and metabolic syndrome.
Specifically, we are interested in the mitochondrial genome and how variants in the
mitochondrial genome influence a person's risk to develop diabetes and metabolic syndrome.
Since our laboratory's initial linkage of Type 2 diabetes to a mtDNA rearrangement in a
three generation maternal pedigree 13 years ago, there has been increasing support for our
hypothesis that mitochondrial dysfunction plays an important role in the etiology of Type 2
Diabetes Mellitus (DM) and the overlapping Metabolic Syndrome (MS). With this study we are
planning an extensive investigation of defects in mitochondrial oxidative phosphorylation
(OXPHOS) caused potentially by deleterious sequence variants in the mitochondrial DNA
(mtDNA). As the primary objective we are trying to further substantiate 2 hypotheses: 1)
that these diabetogenic mtDNA variants, which are proposed to range from recent, relatively
severe, mutations will result in substantial OXPHOS defects with familial DM & MS and 2)
that ancient, relatively mild polymorphisms result in partial OXPHOS defects and an increase
in the risk to develop DM & MS.
three generation maternal pedigree 13 years ago, there has been increasing support for our
hypothesis that mitochondrial dysfunction plays an important role in the etiology of Type 2
Diabetes Mellitus (DM) and the overlapping Metabolic Syndrome (MS). With this study we are
planning an extensive investigation of defects in mitochondrial oxidative phosphorylation
(OXPHOS) caused potentially by deleterious sequence variants in the mitochondrial DNA
(mtDNA). As the primary objective we are trying to further substantiate 2 hypotheses: 1)
that these diabetogenic mtDNA variants, which are proposed to range from recent, relatively
severe, mutations will result in substantial OXPHOS defects with familial DM & MS and 2)
that ancient, relatively mild polymorphisms result in partial OXPHOS defects and an increase
in the risk to develop DM & MS.
Inclusion Criteria:
- Chinese or Taiwanese ancestry
- Resident of Southern California
- Age between 40 and 65
- Both people with and without diabetes are welcome to enroll.
Exclusion Criteria:
- Younger than 40 years or older than 65 years
- Ancestry is not Chinese or Taiwanese
- Not a resident of Southern California
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