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<p>Parkinson’s disease (PD) is a progressive neurological disorder that can be inherited through pathogenic variants of certain genes. While variants of some genes have been linked to PD, the specific role of variant c.1492T&gt;G in the <i>GLUD2</i> gene in PD development remains unclear. The <i>GLUD2</i> gene is located on the q arm of the X chromosome and is a pseudogene for <i>GLUD1</i>, which encodes for glutamate dehydrogenase type 1. Both <i>GLUD2</i> and <i>GLUD1</i> are involved in the regulation of glutamate levels in the brain, and their dysfunction has been linked to PD. However, more research is needed to fully understand the role of this particular variant in PD pathogenesis. Previously, induced pluripotent stem cells (iPSCs) from a patient with PD [PD40], were generated in the laboratory of developmental epigenetics at the Institute of Cytology and Genetics SB RAS. The patient is a 55-year-old man with a hemizygous genotype, carrying a pathogenic missense mutation (c.1492T&gt;G, p.S498A, rs9697983) in the <i>GLUD2</i> gene that leads to increased activity of the hGDH2 mitochondrial enzyme. In this study in patient-specific cells (IPSC-derived astrocytes and dopaminergic neurons), we have shown for the first time the proposed contribution of this variant to mitochondrial function in PD.</p>

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Evaluation of Mitochondrial Activity in Neural iPSC Derivatives Obtained from a Parkinson’s Disease Patient with Genetic Variant C.1492T>G of GLUD2

  • 期刊论文

  • 发表日期：

    2025年9月1日

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  • D. A. Sorogina,
  • E. V. Grigor’eva,
  • S. V. Pavlova,
  • A. A. Malakhova,
  • S. M. Zakian

摘要

Parkinson’s disease (PD) is a progressive neurological disorder that can be inherited through pathogenic variants of certain genes. While variants of some genes have been linked to PD, the specific role of variant c.1492T>G in the GLUD2 gene in PD development remains unclear. The GLUD2 gene is located on the q arm of the X chromosome and is a pseudogene for GLUD1, which encodes for glutamate dehydrogenase type 1. Both GLUD2 and GLUD1 are involved in the regulation of glutamate levels in the brain, and their dysfunction has been linked to PD. However, more research is needed to fully understand the role of this particular variant in PD pathogenesis. Previously, induced pluripotent stem cells (iPSCs) from a patient with PD [PD40], were generated in the laboratory of developmental epigenetics at the Institute of Cytology and Genetics SB RAS. The patient is a 55-year-old man with a hemizygous genotype, carrying a pathogenic missense mutation (c.1492T>G, p.S498A, rs9697983) in the GLUD2 gene that leads to increased activity of the hGDH2 mitochondrial enzyme. In this study in patient-specific cells (IPSC-derived astrocytes and dopaminergic neurons), we have shown for the first time the proposed contribution of this variant to mitochondrial function in PD.