Publications by authors named "Mari M S G Cardena"
Purpose: Polymorphisms in the control region of mitochondrial DNA (mtDNA) can affect generation of reactive oxygen species and impact in the pathogenesis of endometriosis. This study investigated the association of mtDNA polymorphisms with endometriosis.
Methods: Patients were divided in two groups: endometriosis (n = 90) and control (n = 92).
Article Synopsis
- * DNA samples from over 1,200 locals and affected families were analyzed, revealing seven families with the mutation and highlighting a minor allelic frequency of 0.29%, which is notably higher compared to other variants.
- * Genetic analysis confirmed that all heterozygous carriers shared the same haplotype as the homozygous patients, suggesting a founder effect linked to European ancestry for this particular mutation.
In populations that have a high degree of admixture, such as in Brazil, the sole use of ethnicity self-declaration information is not a good method for classifying individuals regarding their ethnicity. Here, we evaluate the relationship of self-declared ethnicities with genomic ancestry and mitochondrial haplogroups in 492 individuals from southeastern Brazil. Mitochondrial haplogroups were obtained by analyzing the hypervariable regions of the mitochondrial DNA (mtDNA), and the genomic ancestry was obtained using 48 autosomal insertion-deletion ancestry informative markers (AIM).
View Article and Find Full Text PDFMitochondria provide an environment conducive to mutations in DNA molecules (mtDNA). Analyses of mtDNA have shown mutations potentially leading to many cardiovascular traits. Here, we describe a patient with dilated cardiomyopathy and new mtDNA duplication.
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