Symbol
| SIRT3
| contributors: mct/pgu - updated : 15-10-2016
|
HGNC name
| sirtuin 3
|
HGNC id
| 14931
|
Other morbid association(s)
|
Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
---|
constitutional
|  
|  
| --low
|  
|
in skeletal muscle in states of diabetes and obesity is an important component of the pathogenesis of type 2 diabetes, which can induce altered mitochondrial function, increase ROS production and oxidative stress, and lead to insulin resistance  | |
Susceptibility
|
to survival at oldest age to metabolic syndrome |
Variant & Polymorphism
SNP
, repeat
| VNTR with enhancer activity associated to longevity |
|
SNP in SIRT3 gene is suggestive of a genetic association with the metabolic syndrome  |
|
|
Candidate gene
Marker
Therapy target
| | | |
| SIRT3-deficient mice exhibit striking mitochondrial protein hyperacetylation  | |
Sirt3 plays an essential role in the Caloric restriction-mediated prevention of age-related cochlear cell death and hearing loss in mice  |
|
Sirt3 knockout mice exhibit decreased oxygen consumption and develop oxidative stress in skeletal muscle, leading to JNK activation and impaired insulin signaling  |
|
mice lacking Sirt3 (Sirt3KO) placed on a high-fat diet show accelerated obesity, insulin resistance, hyperlipidemia, and steatohepatitis compared to wild-type  |