Identification of Haplogroups from Mitochondrial DNA in Patients with Neuromyelitis Optica in Bogotá and Medellín, Colombia

Abstract

Neuromyelitis optica (NMO) is an autoimmune, inflammatory, and demyelinating disorder of the central nervous system that primarily affects the optic nerve and the spinal cord. Mitochondrial DNA (mtDNA) haplogroups are markers used to assess maternal lineage history. Ancestry can be inferred using mtDNA haplogroups and can be used to determine population stratification, which is particularly important in recently mixed populations like Latin Americans. The objective of this study was to identify haplogroups through mtDNA analysis in patients with NMO and controls from Bogotá and Medellín, Colombia. A case-control analysis was conducted. Genomic DNA was isolated and purified from blood samples. The hypervariable region 1 of mtDNA was amplified by PCR, and haplogroups were determined using the HaploGrep software. A distribution analysis was conducted to determine their frequencies in both patients and controls. A Pearson test was performed on the total haplogroups using STATA 17.0 software. A high frequency of the Amerindian haplogroup A was found. No differences in haplogroup frequencies were observed between patients and controls. Haplogroups A, B, C, D, L, M, and G were present in the city of Bogotá, while haplogroups A, D, L, T, and J were found in the city of Medellín. No association was found between haplogroups and a history of AQP4-IgG1 antibodies (p = 0.865), optic neuritis (p = 0.317), transverse myelitis (p = 0.396), or the EDSS scale (p = 0.681).