The Genetics of Diabetes in Southern California Chinese Americans

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.

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.

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