Angélica González-Oliver

Mitochondrial DNA (mtDNA) variation has traditionally been investigated in the context of human evolution and rare mitochondrial diseases; however, growing evidence suggests that it may also contribute to susceptibility to common metabolic disorders. This review integrates current knowledge of mitochondrial biology, mtDNA genetics, heteroplasmy, and the global distribution of mitochondrial haplogroups to examine their roles in health and disease. In this narrative review, we synthesized English-language studies identified through PubMed, Scopus, and Web of Science from January 1988 to May 2026, prioritizing evidence according to relevance, scientific contribution, recency, and historical significance. We summarize evidence showing how pathogenic variants (PVs) in mtDNA genes impair oxidative phosphorylation (OXPHOS), increase reactive oxygen species (ROS) production, and disrupt cellular bioenergetics, thereby contributing to the multisystem manifestations of mitochondrial diseases. We further discuss population-specific mitochondrial haplogroups and their reported population-specific associations with metabolic phenotypes, including obesity, type 2 diabetes (T2D), and cardiovascular disease (CVD). Finally, we review recent advances in next-generation sequencing technologies and their contributions to the molecular diagnosis of mitochondrial diseases and the characterization of genotype–phenotype relationships. Collectively, current evidence supports a well-established pathogenic role for specific mtDNA variants in primary mitochondrial disorders, whereas the contributions of common polymorphisms and haplogroups to complex metabolic disease remain largely associative and require further replication and functional validation.

Mitochondrial DNA plays a key role in understanding the demographic history of human populations. Particularly in the Americas#nine widespread Native American specific mitochondrial lineages have been identified. Here we performed the whole mitogenome sequencing of 572 Indigenous individuals from 60 populations spanning the Mexican territory. To minimize the effects of European and African admixture#we focused on individuals with at least 90% Native American ancestry#estimated by ADMIXTURE. We identified all the five major Native American haplogroups clades#with A2 being the most prevalent (53.9%)#followed by B2 (24.0%)#C1 (17.6%)#D1 (4.3%)#and D4h3a (0.2%). We also identified 82 different subhaplogroup widespread across the country#revealing shared mtDNA haplogroups in populations from distant regions. Moreover#mitochondrial DNA variation in the Mexican Native populations is not structured by geography or linguistic affiliation#suggesting complex gene flow across regions. Demographic reconstructions based on whole mitogenomes showed an exponential increase the maternal Ne around 10 kya in all tested regions. All these findings suggest a mitochondrial genetic persistence through Mexico and possibly the Americas.

Mitochondrial haplogroup B is characterized by a 9-base-pair deletion (CCCCCTCTA) located between nucleotide positions 8,272 to 8,289 of the human mitochondrial genome. Conventional molecular approaches for detecting this deletion include PCR amplification followed by polyacrylamide gel electrophoresis, or PCR coupled with capillary electrophoresis. In this study, we propose a numerical and graphical method based on real-time PCR that combines melting temperature (Tm) determination with melting-curve analysis to distinguish between haplogroup B and non-B individuals. Using 1 ng of DNA, samples belonging to haplogroup B exhibited a mean theoretical Tm of 76.1550 °C, whereas non-B sample exhibited a mean Tm of 76.8250 °C. Across different DNA concentrations, the mean experimental Tm of haplogroup B samples differed from that of non-B samples by 0.7258 ± 0.0526 °C. Statistical analysis identified the optimal DNA concentration range for this technique as 0.7-2 ng per real-time PCR reaction. These observations indicate that 0.5-1 ng of DNA per assay yield consistent and reliable results. It is recommended that each assay include minimum one pair of haplogroup B and non-B samples as controls. The proposed real-time PCR method enables accurate identification of the 9-base-pair deletion characteristics of haplogroup (macrogroup) B, while posing lower health risks, requiring less analysis time and fewer resources than conventional techniques. This approach is applicable in evolutionary, clinical, and forensic investigations. The online version contains supplementary material available at 10.1007/s11033-026-11544-0.

The human louse, Pediculus humanus, is an obligate blood-sucking ectoparasite that has coevolved with humans for millennia. Given the intimate relationship between this parasite and the human host, the study of human lice has the potential to shed light on aspects of human evolution that are difficult to interpret using other biological evidence. In this study, we analyzed the genetic variation in 274 human lice from 25 geographic sites around the world by using nuclear microsatellite loci and female-inherited mitochondrial DNA sequences. Nuclear genetic diversity analysis revealed the presence of two distinct genetic clusters I and II, which are subdivided into subclusters: Ia-Ib and IIa-IIb, respectively. Among these samples, we observed the presence of the two most common louse mitochondrial haplogroups: A and B that were found in both nuclear Clusters I and II. Evidence of nuclear admixture was uncommon (12%) and was predominate in the New World potentially mirroring the history of colonization in the Americas. These findings were supported by novel DIYABC simulations that were built using both host and parasite data to define parameters and models suggesting that admixture between cI and cII was very recent. This pattern could also be the result of a reproductive barrier between these two nuclear genetic clusters. In addition to providing new evolutionary knowledge about this human parasite, our study could guide the development of new analyses in other host-parasite systems.

The indigenous Mazahua and Otomi have inhabited the same localities in Estado de México since pre-Columbian times. Their languages, Mazahua and Otomi, belong to...

The initial contact of European populations with indigenous populations of the Americas produced diverse admixture processes across North, Central, and South America. Recent studies have examined the genetic structure of indigenous populations of Latin America and the Caribbean and their admixed descendants, reporting on the genomic impact of the history of admixture with colonizing populations of European and African ancestry. However, relatively little genomic research has been conducted on admixture in indigenous North American populations. In this study, we analyze genomic data at 475,109 single-nucleotide polymorphisms sampled in indigenous peoples of the Pacific Northwest in British Columbia and Southeast Alaska, populations with a well-documented history of contact with European and Asian traders, fishermen, and contract laborers. We find that the indigenous populations of the Pacific Northwest have higher gene diversity than Latin American indigenous populations. Among the Pacific Northwest populations, interior groups provide more evidence for East Asian admixture, whereas coastal groups have higher levels of European admixture. In contrast with many Latin American indigenous populations, the variance of admixture is high in each of the Pacific Northwest indigenous populations, as expected for recent and ongoing admixture processes. The results reveal some similarities but notable differences between admixture patterns in the Pacific Northwest and those in Latin America, contributing to a more detailed understanding of the genomic consequences of European colonization events throughout the Americas. We collaborated with six indigenous communities in British Columbia and Southeast Alaska to generate and analyze genome-wide data for over 100 individuals. We then combined this dataset with existing data from populations worldwide, performing an investigation of the genetic structure of indigenous populations of the Pacific Northwest both locally and in relation to continental and worldwide geographic scales. On a regional scale, we identified differences between coastal and interior populations that are likely due to differences both in pre- and post-European contact histories. On a continental scale, we identified differences in genetic structure between populations in the Pacific Northwest and Central and South America, reflecting both differences prior to European contact as well as different post-contact histories of admixture. This study is among the first to analyze genome-wide diversity among indigenous North American populations, and it provides a comparative framework for understanding the effects of European colonization on indigenous communities throughout the Americas.

Anthropological studies suggest that the genetic makeup of human populations in the Americas is the result of diverse processes including the initial colonization of the continent by the first people plus post‐1492 European migrations. Because of the recent nature of some of these events, understanding the geographical origin of American human diversity is challenging. However, human parasites have faster evolutionary rates and larger population sizes allowing them to maintain greater levels of genetic diversity than their hosts. Thus, we can use human parasites to provide insights into some aspects of human evolution that may be unclear from direct evidence. In this study, we analyzed mitochondrial DNA (mtDNA) sequences from 450 head lice in the Americas. Haplotypes clustered into two well‐supported haplogroups, known as A and B. Haplogroup frequencies differ significantly among North, Central and South America. Within each haplogroup, we found evidence of demographic expansions around 16,000 and 20,000 years ago, which correspond broadly with those estimated for Native Americans. The parallel timing of demographic expansions of human lice and Native Americans plus the contrasting pattern between the distribution of haplogroups A and B through the Americas suggests that human lice can provide additional evidence about the human colonization of the New World. Am J Phys Anthropol 152:118–129, 2013.

The Farming/Language Dispersal Hypothesis posits that prehistoric population expansions, precipitated by the innovation or early adop-tion of agriculture, played an important role in the uneven distribution of language families recorded across the world. In this case, the most widely spread language families today came to be distributed at the expense of those that have more restricted distributions. In the Americas, Uto-Aztecan is one such language family that may have been spread across Mesoamerica and the American Southwest by ancient farmers. We evaluated this hypothesis with a large-scale study of mitochondrial DNA (mtDNA) and Y-chromosomal DNA vari-ation in indigenous populations from these regions. Partial correlation coefficients, determined with Mantel tests, show that Y-chromosome variation in indigenous populations from the American Southwest and Mesoamerica correlates significantly with linguistic distances (r= 0.33–0.384;P< 0.02), whereas mtDNA diversity correlates significantly with only geographic distance (r= 0.619;P= 0.002). The lack of correlation between mtDNA and Y-chromosome diversity is consistent with differing population histories of males and females in these regions. Although unlikely, if groups of Uto-Aztecan speakers were responsible for the northward spread of agriculture and their languages from Mesoamerica to the Southwest, this migration was possibly biased to males. However, a recent in situ population expansion within the American Southwest (2,105 years before present; 99.5% confidence interval = 1,273–3,773 YBP), one that probably followed the introduction and intensification of maize agriculture in the region, may have blurred ancient mtDNA patterns, which might otherwise have revealed a closer genetic relationship between females in the Southwest and Mesoamerica.

The systematic relationships of acanthocephalans, including Leptorhynchoides and Pseudoleptorhynchoides that occur in freshwater and marine fishes in Neartic and Neotropical regions, are enigmatic. Leptorhynchoides (3 species) and Pseudoleptorhynchoides (1 species) are presently classified in the Rhadinorhynchidae. However, recent molecular and morphological phylogenies have challenged the monophyly of this family. Sequences of nuclear ribosomal DNA (large subunit, small subunit regions) and the mitochondrial cytochrome c oxidase subunit I gene of Leptorhynchoides thecatus and Pseudoleptorhynchoides lamothei were used in phylogenetic analyses with available sequences of 26 other acanthocephalans. Maximum parsimony and maximum likelihood analyses were identical in placing both genera in the Illiosentidae. Bootstrap analyses also indicate that placement of these genera with members of Illiosentidae is reliably supported.

In this study, 231 Y chromosomes from 12 populations were typed for four diagnostic single nucleotide polymorphisms (SNPs) to determine haplogroup membership and 43 Y chromosomes from three of these populations were typed for eight short tandem repeats (STRs) to determine haplotypes. These data were combined with previously published data, amounting to 724 Y chromosomes from 26 populations in North America, and analyzed to investigate the geographic distribution of Y chromosomes among native North Americans and to test the Southern Athapaskan migration hypothesis. The results suggest that European admixture has significantly altered the distribution of Y chromosomes in North America and because of this caution should be taken when inferring prehistoric population events in North America using Y chromosome data alone. However, consistent with studies of other genetic systems, we are still able to identify close relationships among Y chromosomes in Athapaskans from the Subarctic and the Southwest, suggesting that a small number of proto‐Apachean migrants from the Subarctic founded the Southwest Athapaskan populations. Am J Phys Anthropol, 2008.