[Frontiers in Bioscience S5, 360-368, January 1, 2013]

Mitochondrial genetics and osteoarthritis

Ignacio Rego-Perez1, Mercedes Fernandez-Moreno1, Angel Soto-Hermida1, Carlos Fenandez-Lopez1, Natividad Oreiro1, Francisco J. Blanco1,2,3

1Rheumatology Division,Genomic Laboratory INIBIC-Hospital Universitario A Coruna, As Xubias 84, 15006-A Coruna Spain, 2CIBER-BBN- Instituto de Salud Carlos III-Madrid-Spain, 3Departamento de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela, Spain

TABLE OF CONTENTS

1. Abstract
2. Introduction
3. The mtDNA haplogroups
3.1. mtDNA haplogroups and osteoarthritis
3.2. mtDNA haplogroups and OA-related biomarkers
3.3. mtDNA haplogroups and OA-related features
3.4. mtDNA haplogroups and longevity
3.5. mtDNA haplogroups, Nitric Oxide (NO) and telomere damage
4. mtDNA damage and osteoarthritis
5. Conclusion
6. Acknowledgements
7. References

1. ABSTRACT

The genetic contribution is one of the most notable factors that play a main role in the risk of OA. Despite the genetics of this disease is complex and the finding of risk-related genes has been very challenging, evidence for genetic predisposition has been reported. Besides, in the last years recent evidences indicate that the mitochondrion is implicated in OA. In this context, the mtDNA haplogroups, defined as individual groups characterized by the presence of a particular set of single nucleotide polymorphisms (SNPs) in the mtDNA sequence, emerged as new genetic variants involved in this pathology. Moreover, it has been described that mtDNA damage not only accumulates in OA chondrocytes, but also that OA chondrocytes have limited mtDNA repair capacity. In this review we will focus on the influence of mitochondrial genetics and the mtDNA haplogroups in the prevalence, severity and progression of the OA disease, as well as their incidence on many OA-related features, such as serum levels of OA-related molecular markers, Nitric Oxide production or telomere length.