Mitochondrial DNA in osteoarthritis disease
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EDITORIAL
Mitochondrial DNA in osteoarthritis disease Francisco J. Blanco 1,2
&
Ignacio Rego-Pérez 1
Received: 28 April 2020 / Revised: 11 September 2020 / Accepted: 14 September 2020 / Published online: 25 September 2020 # International League of Associations for Rheumatology (ILAR) 2020
Osteoarthritis (OA) is the most prevalent chronic joint disease, and we actually know that the activation of maladaptive responses to injury, including pro-inflammatory pathways, leads to the loss of normal joint function characterized by cartilage degradation, bone remodeling, osteophyte formation, and joint inflammation [1]. Recent insights into the epidemiology and impact of OA on patients have clearly established that OA is a severe disease of the whole joint as an organ, with large unmet medical needs. OA has a complex etiology that comprises the combination of multiple factors, including gender, age, occupation, trauma, body mass index, and genetics. Approximately, between 30 and 65% of the risk of OA is genetically determined [2] with evidence accumulated from different genome-wide association studies (GWAS) [3]. Most of these studies focused on nuclear genetic variants; however, over the last decade, evidence has accumulated for an association between specific mitochondrial DNA (mtDNA) genetic variants, called haplogroups, and different OA-related features, including prevalence, progression, and incidence [4].
mtDNA haplogroups: definition and clinical associations mtDNA haplogroups are the result of sequentially accumulating mutations along radiating maternal lineages as women * Francisco J. Blanco [email protected] * Ignacio Rego-Pérez [email protected] 1
Grupo de Investigación en Reumatología, Unidad de Genómica, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, A Coruna, Spain
2
Agrupación CICA-INIBIC, Departamento de Fisioterapia, Medicina y Ciencias Biomedicas, Universidade da Coruña (UDC), A Coruna, Spain
migrated out of Africa to colonize the rest of the world, adapting their energy metabolism to different environments to allow our ancestors to adapt to colder climates. This resulted in the regional enrichment of specific mtDNA lineages, called haplogroups which, today, affect health and longevity due to the profound differences in both energy metabolism and mammalian biology that exist among them [5–8]. The meta-analysis presented by Zhao and co-workers confirms and reinforces the involvement of specific mtDNA variants in the prevalence and progression of OA. Specifically, variants within the mtDNA cluster TJ are not only underrepresented in OA patients but also are less frequent in patients with higher progression rates; however, the impact comes mainly from variants J and T respectively [9]. mtDNA haplogroups J and T are considered “sister haplogroups” that share a set of uncoupling mtDNA polymorphisms [8] that make these two haplogroups biochemically different from other mtDNA variants, especially haplogroup H [10, 11].
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