Identificación de haplogrupos mitocondriales en pacientes con Neuromielitis Óptica, un estudio de casos y controles

Neuromyelitis Optica (NMO) is an autoimmune, inflammatory, and demyelinating disorder of the central nervous system, mainly affecting the optic nerve and spinal cord. The aim of this study is to identify mitochondrial haplogroups in patients with NMO from Bogotá and Medellín, Colombia. For this purp...

Full description

Autores:
Montejo Montes, Angie Michelle
Tipo de recurso:
Trabajo de grado de pregrado
Fecha de publicación:
2023
Institución:
Universidad de los Andes
Repositorio:
Séneca: repositorio Uniandes
Idioma:
spa
OAI Identifier:
oai:repositorio.uniandes.edu.co:1992/69262
Acceso en línea:
http://hdl.handle.net/1992/69262
Palabra clave:
Neuromielitis Óptica, ADN mitocondrial, haplogrupos mitocondriales, asociación.
Microbiología
Rights
openAccess
License
Attribution-NoDerivatives 4.0 Internacional
Description
Summary:Neuromyelitis Optica (NMO) is an autoimmune, inflammatory, and demyelinating disorder of the central nervous system, mainly affecting the optic nerve and spinal cord. The aim of this study is to identify mitochondrial haplogroups in patients with NMO from Bogotá and Medellín, Colombia. For this purpose, a case-control analysis was performed, genomic DNA was isolated and purified from venous blood samples. Through PCR, the hypervariable region 1 of mitochondrial DNA was amplified and haplogroups were determined using HaploGrep software. Afterwards, a statistical analysis was performed to evaluate the meaning of the results. For instance, Native American haplogroups (A, B, C and D) showed a higher prevalence in the whole population, the cities of Bogota and Medellin were mostly influenced by European and African haplogroups, respectively. Finally, no significant differences were observed in the distribution of haplogroups between patients and controls, in the general population and for each study city. However, differences were found for haplogroups between the population of Bogota and Medellín. Mitochondrial haplogroups in the population are not directly associated with the disease.