March 15, 2013

SIRT1 Mutation Can Lead to T1D

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SIRT1-mutationAn evaluation published in Cell Metabolism  identifies a gene mutation that is implicated in families with T1D.  

SIRT1 regulates immune and metabolic function in humans. People with a mutation in SIRT1 are susceptible to developing T1D.

Correctly developed SIRT1 regulates the production of nitric oxide and cytokines. Nitric oxide helps protect the heart against cardiovascular disease. In fact, exercise is known to elevate nitric oxide in the body.

However, excess nitric oxide in T1D contributes to glomerular hyperfiltration and persistent microalbuminuria, which are complications that result in kidney disease.

Even when people with T1D keep well-controlled glucose levels, excess nitric oxide wreaks havoc in the kidney.

Cytokines are responsible for the immune confusion in T1D development. SIRT1 plays an important role in the derangement of cyrtokines.

SIRT1 mutation in the development of T1D was observed in a family of 5 people. Of the 5 people,. all 5 members had an autoimmune disease and all 5 had an SIRT1 gene mutation. 4 had T1D and 1 had ulcerative colitis.

Apparently, the SIRT1 mutation allows for an overproduction of nitric oxide, cytokines, and chemokines. Chemokines are responsible for the movement of immune cells.

The combination of all 3 factors is the perfect storm in the develop of T1D when a family has an SIRT1 mutation. .

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