Unraveling the functional consequences of a novel germline missense mutation (R38C) in the yeast model of succinate dehydrogenase subunit B: insights into neurodegenerative disorders

This study explores the implications of a novel germline missense mutation (R38C) in the succinate dehydrogenase (SDH) subunit B, which has been linked to neurodegenerative diseases. The mutation was identified from the SDH mutation database and corresponds to the SDH2R32C allele, mirroring the huma...

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Main Authors: Jiatong Zheng, Siru Liu, Dongdong Wang, Linlin Li, Surendra Sarsaiya, Hua Zhou, Heng Cai
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-09-01
Series:Frontiers in Molecular Neuroscience
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fnmol.2023.1246842/full
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author Jiatong Zheng
Siru Liu
Dongdong Wang
Linlin Li
Surendra Sarsaiya
Hua Zhou
Heng Cai
author_facet Jiatong Zheng
Siru Liu
Dongdong Wang
Linlin Li
Surendra Sarsaiya
Hua Zhou
Heng Cai
author_sort Jiatong Zheng
collection DOAJ
description This study explores the implications of a novel germline missense mutation (R38C) in the succinate dehydrogenase (SDH) subunit B, which has been linked to neurodegenerative diseases. The mutation was identified from the SDH mutation database and corresponds to the SDH2R32C allele, mirroring the human SDHBR38C mutation. By subjecting the mutant yeast model to hydrogen peroxide (H2O2) stress, simulating oxidative stress, we observed heightened sensitivity to oxidative conditions. Quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR) analysis revealed significant regulation (p < 0.05) of genes associated with antioxidant systems and energy metabolism. Through gas chromatography-mass spectrometry (GC-MS) analysis, we examined yeast cell metabolites under oxidative stress, uncovering insights into the potential protective role of o-vanillin. This study elucidates the biological mechanisms underlying cellular oxidative stress responses, offering valuable insights into its repercussions. These findings shed light on innovative avenues for addressing neurodegenerative diseases, potentially revolutionizing therapeutic strategies.
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spelling doaj.art-0d00faca8c9a4a95a72ce5e31fa3a8142023-09-28T17:48:40ZengFrontiers Media S.A.Frontiers in Molecular Neuroscience1662-50992023-09-011610.3389/fnmol.2023.12468421246842Unraveling the functional consequences of a novel germline missense mutation (R38C) in the yeast model of succinate dehydrogenase subunit B: insights into neurodegenerative disordersJiatong ZhengSiru LiuDongdong WangLinlin LiSurendra SarsaiyaHua ZhouHeng CaiThis study explores the implications of a novel germline missense mutation (R38C) in the succinate dehydrogenase (SDH) subunit B, which has been linked to neurodegenerative diseases. The mutation was identified from the SDH mutation database and corresponds to the SDH2R32C allele, mirroring the human SDHBR38C mutation. By subjecting the mutant yeast model to hydrogen peroxide (H2O2) stress, simulating oxidative stress, we observed heightened sensitivity to oxidative conditions. Quantitative real-time reverse transcription polymerase chain reaction (qRT-PCR) analysis revealed significant regulation (p < 0.05) of genes associated with antioxidant systems and energy metabolism. Through gas chromatography-mass spectrometry (GC-MS) analysis, we examined yeast cell metabolites under oxidative stress, uncovering insights into the potential protective role of o-vanillin. This study elucidates the biological mechanisms underlying cellular oxidative stress responses, offering valuable insights into its repercussions. These findings shed light on innovative avenues for addressing neurodegenerative diseases, potentially revolutionizing therapeutic strategies.https://www.frontiersin.org/articles/10.3389/fnmol.2023.1246842/fullSaccharomyces cerevisiaesuccinate dehydrogenaseR32CqRT-PCRGC-MShydrogen peroxide stress
spellingShingle Jiatong Zheng
Siru Liu
Dongdong Wang
Linlin Li
Surendra Sarsaiya
Hua Zhou
Heng Cai
Unraveling the functional consequences of a novel germline missense mutation (R38C) in the yeast model of succinate dehydrogenase subunit B: insights into neurodegenerative disorders
Frontiers in Molecular Neuroscience
Saccharomyces cerevisiae
succinate dehydrogenase
R32C
qRT-PCR
GC-MS
hydrogen peroxide stress
title Unraveling the functional consequences of a novel germline missense mutation (R38C) in the yeast model of succinate dehydrogenase subunit B: insights into neurodegenerative disorders
title_full Unraveling the functional consequences of a novel germline missense mutation (R38C) in the yeast model of succinate dehydrogenase subunit B: insights into neurodegenerative disorders
title_fullStr Unraveling the functional consequences of a novel germline missense mutation (R38C) in the yeast model of succinate dehydrogenase subunit B: insights into neurodegenerative disorders
title_full_unstemmed Unraveling the functional consequences of a novel germline missense mutation (R38C) in the yeast model of succinate dehydrogenase subunit B: insights into neurodegenerative disorders
title_short Unraveling the functional consequences of a novel germline missense mutation (R38C) in the yeast model of succinate dehydrogenase subunit B: insights into neurodegenerative disorders
title_sort unraveling the functional consequences of a novel germline missense mutation r38c in the yeast model of succinate dehydrogenase subunit b insights into neurodegenerative disorders
topic Saccharomyces cerevisiae
succinate dehydrogenase
R32C
qRT-PCR
GC-MS
hydrogen peroxide stress
url https://www.frontiersin.org/articles/10.3389/fnmol.2023.1246842/full
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