Table 2:
Influence of mitochondrial haplogroups.
| mtDNA Haplogroup | Mutation Type | Protein affected | Effect | Related to OA | Ref. |
|---|---|---|---|---|---|
| Haplogroup H | Synonymous | Complex I Complex IV |
Increased ROS production and expression of IL33 and NF-κB; Increased risk of retinopathy and neuropathy. | - | [86, 92] |
| Haplogroup I | Synonymous | Complex I | Increased risk of Amyotrophic Lateral Sclerosis. | - | [86, 92] |
| Haplogroup W | Synonymous | Complex I | Increased longevity. Protection against Parkinson’s disease. | - | [86, 92] |
| Haplogroup X | Synonymous | Complex IV | Decreased risk of obesity. | - | [86, 92] |
| Haplogroup J | Non-synonymous | Complex I Complex III |
Decreased ROS production, mtDNA damage, blood pressure, NO production and expression of IL33 and NF-κB; Longer telomere length and increased longevity; Decreased risk of morbid obesity. | Decreased OA incidence and prevalence | [93–95] |
| Haplogroup T | Non-synonymous | Complex I | Increased production of ROS. Increased risk of morbid obesity and diabetic retinopathy. Decreased risk of Parkinson’s disease. | Decreased OA prevalence and slows progression | [93] [96] [98] |
| Haplogroup K | Non-synonymous | Complex I Complex V |
Decreased ROS production. Decreased risk of Parkinson’s disease. | - | [86, 92] |
| Haplogroup U | Non-coding | Complex I | Decreased ROS production Decreased risk of Parkinson’s disease. | - | [86, 92] |
| Haplogroup V | Synonymous | Complex I | - | - | [86, 92] |
| Haplogroup L | - | Complexes I, III, IV and V | Decreased mtDNA copy numbers, ROS production and ATP turnover rates; Increased inflammation-related genes. | - | [86, 92] |
| Haplogroup G | Non-synonymous | Complex I Complex III |
Increased OXPHOS and lower glycolysis Increased risk of myocardial infarction. | Increased OA prevalence | [93, 98] |
| Haplogroup B | - | Complex I | Increased risk of type 2 diabetes. | Decreased OA prevalence | [90] |