Category: Ataxia
Objective: We chose important mitochondrial genes such as ndufs5, tim22, fis1, dnm1l to understand the alterations in mitochondrial function in the peripheral blood mononuclear cells (PBMCs) from SCA 12 patients.
Background: Spinocerebellar ataxia type 12 (SCA 12) is an autosomal dominant neurodegenerative disorder attributed to CAG repeat expansion mutation in a 5′ UTR of the ppp2r2b gene. The gene encodes regulatory subunits of the protein phosphatase 2A enzyme. Mitochondrial dysfunction has been reported in most neurodegenerative diseases including SCA12.
Method: Ten genetically confirmed SCA12 patients and ten healthy controls were recruited prospectively following institutional ethical clearances and informed consent. Functional impairment, cognitive function, and depression were assessed using the International Co-operative Ataxia Rating Scale (ICARS), Montreal Cognitive Assessment (MOCA), and Beck’s Depression Inventory (BDI). PBMCs were isolated using density-gradient separation techniques. Gene expression profile of ndufs5, tim22, fis1, dnm1l and gapdh was performed using real-time PCR instrument.
Results: The mean age of the SCA12 patients was 62.5 (±9.19) and 46.9 (±10.33) years for controls. The scores of the ICARS, MOCA and BDI scales for the patients were 33.4 (±20.97), 22.0 (±6.76), and 9.88 (±6.5) respectively and for the healthy, the value was within the normal range. The mean CAG repeat length was 55.55 (±6.34). The mitochondrial genes i.e. ndufs5, tim22, fis1 and dnm1l show similar expression between the SCA12 patients and the healthy controls.
Conclusion: The preliminary result shows that the four mitochondrial genes have no role in disease pathology. The differential expression may be occurring at the protein level or in other cell types.
Previously published-
The abstract has been presented as an e-poster presentation at AOCN-IANCON New Delhi 2022 from November 3 – 6, 2022.
To cite this abstract in AMA style:
S. Ansari, J. Rungta, R. Pal, S. Choudhury, R. Banerjee, S. Dey, H. Kumar. Studies on mitochondrial dysfunction in the peripheral blood mononuclear cells in an ethnic Indian population of SCA 12 patients [abstract]. Mov Disord. 2023; 38 (suppl 1). https://www.mdsabstracts.org/abstract/studies-on-mitochondrial-dysfunction-in-the-peripheral-blood-mononuclear-cells-in-an-ethnic-indian-population-of-sca-12-patients/. Accessed May 21, 2025.« Back to 2023 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/studies-on-mitochondrial-dysfunction-in-the-peripheral-blood-mononuclear-cells-in-an-ethnic-indian-population-of-sca-12-patients/