Exploring the mitochondrial DNA ancestry of patients with type 1 diabetes from an admixed population of the Northeast of Brazil

Abstract

Mitochondrial DNA is a stable genetic marker that can be used to investigate maternal ancestry. Some evidence suggests a potential link between specific mtDNA haplogroups and the emergence of certain diseases. Nevertheless, this correlation has yet to be investigated in patients with T1D. This study aimed to investigate the mitochondrial DNA (mtDNA) ancestry of patients with type 1 diabetes (T1D) and controls in an admixed Brazilian population. The study included 144 patients with T1D and 283 controls. The mtDNA analysis revealed that the most prevalent mtDNA category in both groups was Native American, followed by African. Furthermore, the study showed that the frequency of haplogroup L3 (African) was higher in the T1D group than in the control group, although this difference was not statistically significant after correction for multiple comparisons. The study findings indicate that the higher frequency of Native American and African mtDNA is consistent with historical information about the formation of the population in the State of Maranhão. This finding suggests that future investigations into the correlation between mtDNA and other genetic markers of T1D may offer insights into the etiology and pathogenesis of the disease in admixed populations, such as those in Brazil. Supplementary Information The online version contains supplementary material available at 10.1038/s41598-025-05990-2. Keywords: Type 1 diabetes, Mitochondrial DNA, Ancestry, Admixed population Subject terms: Genetics, Endocrinology