AI Article Synopsis
- Spinocerebellar ataxia type 12 (SCA12) is linked to a genetic mutation (CAG/CTG repeat expansion) at the PPP2R2B gene, leading to neurodegeneration.
- The study aimed to explore how this mutation affects the expression of the Bβ1 protein and a protein that has a long polyserine tract.
- Results showed that the CAG repeat expansion increases the production of both the PPP2R2B 7B7D transcript and Bβ1 protein, and that the long polyserine tract can induce cell death, which may be significant in understanding SCA12's progression.
Article Abstract
Background: Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disease caused by a CAG/CTG repeat expansion at the PPP2R2B locus.
Objective: We investigated how the CAG repeat expansion within the PPP2R2B 7B7D transcript influences the expression of Bβ1 and a potential protein containing a long polyserine tract.
Methods: Transcript and protein expression were measured using quantitative PCR (qPCR) and Western blot, respectively, in an SK-N-MC cell model that overexpresses the full-length PPP2R2B 7B7D transcript. The apoptotic effect of a protein containing a long polyserine tract on SK-N-MC cells was evaluated using caspase 3/7 activity.
Results: The CAG repeat expansion increases the expression of the PPP2R2B 7B7D transcript, as well as Bβ1 protein, in an SK-N-MC cell model in which the full-length PPP2R2B 7B7D transcript is overexpressed. The CAG repeat expansion within the 7B7D transcript is translated into a long polyserine tract that triggers apoptosis in SK-N-MC cells.
Conclusions: The SCA12 mutation leads to overexpression of PPP2R2B Bβ1 and to expression of a protein containing a long polyserine tract; both these effects potentially contribute to SCA12 pathogenesis. © 2024 International Parkinson and Movement Disorder Society.
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| http://dx.doi.org/10.1002/mds.29839 | DOI Listing |
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Mov Disord
October 2024
Division of Neurobiology, Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Article Synopsis
- Spinocerebellar ataxia type 12 (SCA12) is linked to a genetic mutation (CAG/CTG repeat expansion) at the PPP2R2B gene, leading to neurodegeneration.
- The study aimed to explore how this mutation affects the expression of the Bβ1 protein and a protein that has a long polyserine tract.
- Results showed that the CAG repeat expansion increases the production of both the PPP2R2B 7B7D transcript and Bβ1 protein, and that the long polyserine tract can induce cell death, which may be significant in understanding SCA12's progression.
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