ArticleAnnals of Indian Academy of Neurology2026
Mitochondrial DNA Haplogroups and Age at Onset of Spinocerebellar Ataxia Type 2: A Study in Indian Patients.
Article in Annals of Indian Academy of Neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
BACKGROUND AND
objectivesSpinocerebellar ataxia type 2 (SCA2) is caused by cytosine-adenine-guanine (CAG) nucleotide repeat expansion in the ATXN2 gene. Mitochondrial DNA (mtDNA) haplogroups may have an influence on the disease presentation of SCA2.
methodsA total of 217 SCA2 patients were subjected to D-loop region sequencing for inferring mitochondrial haplogroups (mt-haplogroups). The association of age of onset (AO) and mt-haplogroup was assessed using the analysis of covariance (ANCOVA) method.
resultsThe major haplogroups found in SCA2 patients were H (24.9%), L (6.5%), U (17.1%), W (1.8%), M (24.9%), G (0.5%), A (2.3%), N (6.0%), J (0.9%), I (1.4%), T (2.8%), R (3.2%), D (0.9%), C (0.5%), K (0.9%), P (3.2%), and S (2.3%). AO was significantly different at the same expanded CAG repeats in SCA2 patients, showing the role of other genetic factors in the AO modifiers. The ANCOVA model revealed a significant effect of mtDNA haplogroup on AO ( P = 0.005), with variations in haplogroups adjusted for CAG repeat length. Post-hoc analyses further confirmed that haplogroup T ( P = 0.004) and haplogroup M ( P = 0.01) were significantly associated with AO compared to other haplogroups. Specifically, haplogroup M was linked to an early AO, while haplogroup T was associated with a late AO.
conclusionsThe study suggests an association between mt-halogroups and AO in SCA2, independent of CAG repeat length, with haplogroups T and M emerging as potential modifiers that may modulate disease progression. Further research is needed to explore the mechanisms behind these associations and validate the findings in larger cohorts.
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