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FLASH GENE

Symbol

SIRT1

contributors: mct/shn - updated : 24-07-2019

HGNC name	sirtuin 1
HGNC id	14929

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   by various biological stresses, including caloric restriction, which has been shown to prevent numerous diseases of aging such as Alzheimer's constitutional       gain of function decreases adipocyte formation during osteoblast differentiation of mesenchymal stem cells constitutional     --over   might extend lifespan by decreasing fat storage constitutional     --over   in the vasculature during blood vessel growth, where it controls the angiogenic activity of endothelial cells constitutional     --low   precisely during human embryonic stem cell differentiation at both mRNA and protein levels constitutional     --low   promotes activation of the oncogenic AKT pathway to mediate XPC down-regulation tumoral     --over   overexpressed in hepatocellular carcinomas (HCC) cell lines and in a subset of HCC constitutional       loss of function its activity is reduced in liver and adipose tissue in response to obesity tumoral     --over   with overexpression of KIAA1967 is associated with poor prognosis of gastric carcinoma

Susceptibility

to obesity in men to ventricular septal defects (VSD) to Parkinson disease (PD)

Variant & Polymorphism other	genetic variation in SIRT1 increases the risk for obesity, and SIRT1 genotype correlates with visceral obesity parameters in obese men
	variants within the SIRT1 gene promoter identified in VSD patients may alter the transcriptional activities of SIRT1 gene promoter
	genetic variants within the SIRT1 gene promoter may repress SIRT1 gene expression, contributing to PD

Candidate gene	manipulation of Sirt1 can be a plausible therapeutic target molecule in the treatment of renal tubular damages
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive ovary SIRT1 inhibition by nicotinamide reduces proliferation of granulosa tumor cells (both OGCT-derived cell lines and primary explanted OGCT cells) by increasing the amount/activity of endogenous FOXL2, which provides a therapeutic lead neurology neurodegenerative   promising avenue for therapeutic intervention in neurodegenerative disorders neurology neurodegenerative alzheimer therapeutic potential of resveratrol and other sirtuin-activating compounds in Alzheimer disease cancer     inhibitors for SIRT1 may have anticancer potential,(impaired activation of Ras-MAPK pathway might take part in a senescence-like growth arrest program induced by Sirtinol, with attenuated Ras-MAPK signaling in cancer cells) diabete     therapeutics targeting of SIRT1 might provide novel approaches to the treatment of endocrine-related clinical conditions such as obesity, insulin resistance syndromes, and diabetes osteoarticular     up-regulation of Sirt-1 appears to be an important consequence of resveratrol on tenocytes and may be useful in the development of future therapies for the treatment of tendinitis immunology autoimmune   possible therapeutic use of SIRT1 inhibitors against autoimmunity

ANIMAL & CELL MODELS

	SIRT1 is not only induced in mouse models of neurodegeneration but also in primary cultured neurons under neurotoxic stresses
	Sir2-alpha null mice smaller at birth and died during the early postnatal period
	Disruption of Sirt1 expression in zebrafish and mice resulted in defective blood vessel formation and blunted ischemia-induced neovascularization
	Sirt1-deficient mice are reported to exhibit severe neural defects, including exencephaly and disturbed neuroretinal morphogenesis
	Sirt1 knockdown in mIMCD3 cells enhanced alpha-ENaC mRNA levels and alpha-ENaC promoter activity, and inhibited global H3K79 methylation, particularly H3K79 trimethylation, in chromatin associated with the alpha-ENaC promoter
	mouse embryo fibroblasts lacking SIRT1 contain reduced PML protein levels (