Genetic Interaction of H19 and TGFBR1 Polymorphisms with Risk of Epilepsy in a Chinese Population

Zheng, Zhaoshi; Yan, Yayun; Guo, Qi; Wang, Libo; Han, Xuemei; Liu, Song-Yan

doi:10.2147/pgpm.s279664

Cited by 6 publications

(4 citation statements)

References 41 publications

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“…Further qRT-PCR analysis shows that TGFBR1 mRNA levels are significantly higher in epilepsy patients than in controls. Genotype-phenotype analysis show lower levels of TGFBR1 mRNA in carriers with the rs6478974 TT genotype, which is confirmed by eQTL data [302]. Biallelic loss-of-function mutations in TGFB1 result in very early-onset inflammatory bowel disease and CNS dysfunction associated with epilepsy, brain atrophy, and posterior leukoencephalopathy [303].…”

Section: Epilepsymentioning

confidence: 55%

“…Single nucleotide polymorphisms in TGFBR1 are associated with a risk of epilepsy in a Chinese population [302]. More specifically, the TGFBR1 AT and TT genotypes emerge as a protective factor, whereas the TCTAT and TC-CAA haplotypes emerge as a risk factor for epilepsy [302]. Further qRT-PCR analysis shows that TGFBR1 mRNA levels are significantly higher in epilepsy patients than in controls.…”

Section: Epilepsymentioning

confidence: 94%

“…TGFBR1 expression is significantly upregulated in temporal neocortices of patients with TLE [301]. Single nucleotide polymorphisms in TGFBR1 are associated with a risk of epilepsy in a Chinese population [302]. More specifically, the TGFBR1 AT and TT genotypes emerge as a protective factor, whereas the TCTAT and TC-CAA haplotypes emerge as a risk factor for epilepsy [302].…”

Section: Epilepsymentioning

confidence: 99%

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TGF-β as a Key Modulator of Astrocyte Reactivity: Disease Relevance and Therapeutic Implications

Luo

2022

Biomedicines

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Astrocytes are essential for normal brain development and functioning. They respond to brain injury and disease through a process referred to as reactive astrogliosis, where the reactivity is highly heterogenous and context-dependent. Reactive astrocytes are active contributors to brain pathology and can exert beneficial, detrimental, or mixed effects following brain insults. Transforming growth factor-β (TGF-β) has been identified as one of the key factors regulating astrocyte reactivity. The genetic and pharmacological manipulation of the TGF-β signaling pathway in animal models of central nervous system (CNS) injury and disease alters pathological and functional outcomes. This review aims to provide recent understanding regarding astrocyte reactivity and TGF-β signaling in brain injury, aging, and neurodegeneration. Further, it explores how TGF-β signaling modulates astrocyte reactivity and function in the context of CNS disease and injury.

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Section: Epilepsymentioning

confidence: 55%

Section: Epilepsymentioning

confidence: 94%

Section: Epilepsymentioning

confidence: 99%

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TGF-β as a Key Modulator of Astrocyte Reactivity: Disease Relevance and Therapeutic Implications

Luo

2022

Biomedicines

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“…Furthermore, LncRNA H19 was highly expressed in the latent period of epilepsy, contributing to the apoptosis process of hippocampal neurons by targeting let-7b ( Han et al, 2018b ). Moreover, results of clinical observation indicated that the rs6478974 TT genotype could inhibit the susceptibility to epilepsy by reducing the levels of transforming growth factor beta receptor 1 (TGFBR1) mRNA, which is a target of let-7b ( Zheng et al, 2021 ). In addition, the altered LncRNAs could involve with neuronal apoptosis by participating in the regulation of downstream oxidative stress and the expression of apoptosis-related proteins such as Nrf2, BCL2, and Caspase3 ( Feng et al, 2020 , 2021 ; Gong et al, 2020 ; Zhao et al, 2020 ; see Table 1 for details).…”

Section: Role Of Long Non-coding Rnas In the Progress Of Epilepsy And...mentioning

confidence: 99%

Long non-coding RNAs: Potential therapeutic targets for epilepsy

Liu¹,

Fan²,

Ma³

et al. 2022

Front. Neurosci.

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Epilepsy is a common and disastrous neurological disorder characterized by abnormal firing of neurons in the brain, affecting about 70 million people worldwide. Long non-coding RNAs (LncRNAs) are a class of RNAs longer than 200 nucleotides without the capacity of protein coding, but they participate in a wide variety of pathophysiological processes. Alternated abundance and diversity of LncRNAs have been found in epilepsy patients and animal or cell models, suggesting a potential role of LncRNAs in epileptogenesis. This review will introduce the structure and function of LncRNAs, summarize the role of LncRNAs in the pathogenesis of epilepsy, especially its linkage with neuroinflammation, apoptosis, and transmitter balance, which will throw light on the molecular mechanism of epileptogenesis, and accelerate the clinical implementation of LncRNAs as a potential therapeutic target for treatment of epilepsy.

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