Genetic analysis of SIRT1 gene promoter in sporadic Parkinson’s disease

Zhang, Aimei; Wang, Hong‐En; Qin, Xianyun; Pang, Shuchao; Yan, Bo

doi:10.1016/j.bbrc.2012.05.059

Cited by 42 publications

(26 citation statements)

References 47 publications

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“…Resveratrol whose functions include activation of SIRT1 also offered protection in this model, as well as in MPTP-induced mouse Parkinsonism [177, 178]. Moreover, genetic variants that result in reduced SIRT1 expression co-occurred with sporadic PD [179]. …”

Section: Sirtuins In Neurodegeneration and Neuroprotectionmentioning

confidence: 99%

Sirtuins and Their Roles in Brain Aging and Neurodegenerative Disorders

et al. 2016

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Sirtuins (SIRT1–SIRT7) are unique histone deacetylases (HDACs) whose activity depends on NAD+ levels and thus on the cellular metabolic status. SIRTs regulate energy metabolism and mitochondrial function. They orchestrate the stress response and damage repair. Through these functions sirtuins modulate the course of aging and affect neurodegenerative diseases. SIRTSs interact with multiple signaling proteins, transcription factors (TFs) and poly(ADP-ribose) polymerases (PARPs) another class of NAD+-dependent post-translational protein modifiers. The cross-talk between SIRTs TFs and PARPs is a highly promising research target in a number of brain pathologies. This review describes updated results on sirtuins in brain aging/neurodegeneration. It focuses on SIRT1 but also on the roles of mitochondrial SIRTs (SIRT3, 4, 5) and on SIRT6 and SIRT2 localized in the nucleus and in cytosol, respectively. The involvement of SIRTs in regulation of insulin-like growth factor signaling in the brain during aging and in Alzheimer’s disease was also focused. Moreover, we analyze the mechanism(s) and potential significance of interactions between SIRTs and several TFs in the regulation of cell survival and death. A critical view is given on the application of SIRT activators/modulators in therapy of neurodegenerative diseases.

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Section: Sirtuins In Neurodegeneration and Neuroprotectionmentioning

confidence: 99%

Sirtuins and Their Roles in Brain Aging and Neurodegenerative Disorders

et al. 2016

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“…Consequently, disturbances in the regulation of SIRT1 expression or function have been connected to several major diseases, such as diabetes, cancer, and cardiac disease (22,(28)(29)(30). SIRT1 promoter polymorphisms have also been associated with many pathologies, including cardiovascular disease, type 2 diabetes, Parkinson's disease, systemic lupus erythematosus, and inguinal hernia, but in many cases the mechanisms involved have not been identified (31)(32)(33)(34)(35).…”

Section: Sirt1mentioning

confidence: 99%

Who watches the watchmen? Regulation of the expression and activity of sirtuins

2016

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Sirtuins (SIRT1-7) are a family of nicotine adenine dinucleotide (NAD)-dependent enzymes that catalyze post-translational modifications of proteins. Together, they regulate crucial cellular functions and are traditionally associated with aging and longevity. Dysregulation of sirtuins plays an important role in major diseases, including cancer and metabolic, cardiac, and neurodegerative diseases. They are extensively regulated in response to a wide range of stimuli, including nutritional and metabolic challenges, inflammatory signals or hypoxic and oxidative stress. Each sirtuin is regulated individually in a tissue- and cell-specific manner. The control of sirtuin expression involves all the major points of regulation, including transcriptional and post-translational mechanisms and microRNAs. Collectively, these mechanisms control the protein levels, localization, and enzymatic activity of sirtuins. In many cases, the regulators of sirtuin expression are also their substrates, which lead to formation of intricate regulatory networks and extensive feedback loops. In this review, we highlight the mechanisms mediating the physiologic and pathologic regulation of sirtuin expression and activity. We also discuss the consequences of this regulation on sirtuin function and cellular physiology.-Buler, M., Andersson, U., Hakkola, J. Who watches the watchmen? Regulation of the expression and activity of sirtuins.

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“…The bovine SIRT1 gene, localized on chromosome 28 with nine exons, is highly expressed in liver and adipose tissue (Ghinis-Hozumi et al 2011). Previous studies indicate that SNPs within the SIRT1 gene increase the risk of obesity, type 2 diabetes and Parkinson's disease (Zillikens et al 2009;Dong et al 2011;Clark et al 2012;Cui et al 2012;Zhang et al 2012). However, to date, no functional polymorphisms in the promoter region of bovine SIRT1 has been reported.…”

mentioning

confidence: 99%

A novel c.‐274C>G polymorphism in bovine SIRT1 gene contributes to diminished promoter activity and is associated with increased body size

Sun

Zhang

et al. 2013

Animal Genetics

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SIRT1, a mammalian homologue for yeast silent information regulator 2 (SIR2), is a NAD(+) -dependent deacetylase that belongs to the class III histone deacetylases. It plays an important role in diverse cellular processes, including stress resistance, mitochondrial function, suppression of inflammation and DNA repair. In this study, we screened and identified a novel polymorphism (c.-274C>G) in the SIRT1 promoter region. In silico prediction reveals that this SNP is in the core of cell cycle-dependent element (CDE)-binding motif. Interestingly, the G allele abolished a CDE-binding site, which suggested its functional significance. In the luciferase assay system, we found that the G allele-containing construct displayed a strikingly lower promoter activity compared with the C allele, which may downregulate SIRT1 expression levels. Additionally, we observed a significant association between the c.-274C>G polymorphism and growth traits in Nanyang cattle, suggesting that anomalous transcription factor-based repression of SIRT1 may increase bovine fat mass and body size.

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Genetic analysis of SIRT1 gene promoter in sporadic Parkinson’s disease

Cited by 42 publications

References 47 publications

Sirtuins and Their Roles in Brain Aging and Neurodegenerative Disorders

Sirtuins and Their Roles in Brain Aging and Neurodegenerative Disorders

Who watches the watchmen? Regulation of the expression and activity of sirtuins

A novel c.‐274C>G polymorphism in bovine SIRT1 gene contributes to diminished promoter activity and is associated with increased body size

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