What does ZnT8 do?

What does ZnT8 do?

Zinc transporter 8 (ZnT8), a protein highly specific to pancreatic insulin-producing beta cells, is vital for the biosynthesis and secretion of insulin.

What does SLC30A8 gene do?

SLC30A8 encodes an islet ZnT8 zinc transporter that is responsible for zinc transport into β-cell insulin-secretory granules, which is necessary for insulin packaging and secretion [145,146].

What type of mutation is SLC30A8?

Diabetologia.

What does an elevated GAD65 AB indicate?

The presence of GAD autoantibodies indicates an immune system attack, which points to type 1 diabetes. Type 1 diabetes isn’t the only reason someone might have GAD autoantibodies. These antibodies are also linked to other conditions, which include: Cerebellar ataxia.

What are anti GAD antibodies?

Also known as: GAD65 Antibodies to glutamic acid decarboxylase (anti-GAD) are reliable serological markers of Insulin-dependent diabetes mellitus. Anti-GAD antibodies in high titre are associated with the stiff-person syndrome (60% sensitivity), a rare neurological disease characterised by muscle rigidity and spasms.

What is ZnT8 antibody?

ZnT8 antibody distinguishes type 1 and type 2 diabetes mellitus . ZnT8 antibody identifies relatives of diabetic patients at most risk for developing diabetes . ZnT8 antibody predicts the future need for insulin treatment in adult-onset diabetic patients.

Is MODY a type 1 diabetic?

MODY is a rare form of diabetes which is different from both type 1 and type 2 diabetes, and runs strongly in families. MODY is caused by a mutation (or change) in a single gene. If a parent has this gene mutation, any child they have, has a 50% chance of inheriting it from them.

What does ZnT8 stand for?

Zinc transporter 8 ( ZNT8) is a protein that in humans is encoded by the SLC30A8 gene. ZNT8 is a zinc transporter related to insulin secretion in humans. Certain alleles of the SLC30A8 gene may increase the risk for developing type 2 diabetes, but a loss-of-function mutation appears to greatly reduce the risk of diabetes.

What is the role of ZnT8 in diabetes mellitus?

Zinc accumulation in cell granules is manipulated by ZnT8, a zinc transporter expressed predominately in pancreatic α and β cells. A common ZnT8 gene ( SLC30A8) polymorphism increases the risk of type 2 diabetes mellitus (T2DM), and rare mutations may present protective effects.

Can ZnT8 inhibition prevent T2D in SLC30A8 haploinsufficiency?

Earlier functional studies of SLC30A8 suggested that reduced zinc transport increased T2D risk. Conversely, loss-of-function mutations in humans indicate that SLC30A8 haploinsufficiency protects against T2D. Therefore, ZnT8 inhibition can serve as a therapeutic strategy in preventing T2D.

What is the SLC30A8 gene mutation?

Certain alleles of the SLC30A8 gene may increase the risk for developing type 2 diabetes, but a loss-of-function mutation appears to greatly reduce the risk of diabetes. Twelve rare variants in SLC30A8 have been identified through the sequencing or genotyping of approximately 150,000 individuals from 5 different ancestry groups.