Scientists find new "juvenile" diabetes gene

US Scientists claim that they have made a key breakthrough in the battle against diabetes by mapping an important gene that puts children at risk of type 1 diabetes, also called "Insulin-dependent diabetes" or "Juvenile diabetes."

The researchers at the Children's Hospital of Philadelphia and McGill University in Montreal, who reported their findings Sunday in the journal Nature, said a faulty gene appears to be active almost exclusively in the body's immune cells, boosting the risk of developing Type 1 diabetes.

In their latest probe into the causes of this disease, the researchers validated the role of four genes previously involved in raising risk for the disease, and uncovered a fifth gene, called KIAA0350, which is located on a region of chromosome 16.

Researchers believe that the new gene on Chromosome 16 plays the biggest role in type 1 diabetes susceptibility. They linked the newly found gene to Type 1 Diabetes Mellitus (T1D), which is the type that generally starts in childhood and always requires treatment with insulin.

To reach their findings, Dr. Hakon Hakonarson, the lead author of the recent study who is also director of the Center for Applied Genomics at Children's Hospital of Philadelphia, and fellow investigators compared the genomes of 563 children with Type 1 diabetes with those of 1,146 matched control subjects.

They then combined the results with those obtained from an independent analysis of 483 family trios, in which the genomes of a child with the auto-immune disease and both parents were examined.

After observing the data, the researchers found three common variations of the gene that were closely associated with type 1 diabetes (T1D). They concluded that people with a variation of the gene are as much as 50 percent more likely to suffer from type 1 diabetes, while the other likely protects people from developing it.

Although, the gene implicated in the current research, KIAA0350, has a link to immune function, the researchers are still not sure about exactly what the link is. Scientists say they currently do know the exact function of the protein the gene encodes.

“The role of KIAA0350 needs to be investigated,” said Hakonarson. “However, a special cell type called a natural killer (NK) cell expresses this gene abundantly, although at different levels based on these gene variants. Our hypothesis is that a special mutation in KIAA0350 may influence the sugar binding of the protein, and trigger an autoimmune response that activates these NK cells in such a way that they attack and destroy the islet cells in the pancreas, resulting in type 1 diabetes.”

Researchers hope their breakthrough findings may later enable physicians to screen newborns to predict those at high risk of developing the disease.

The World Health Organization recognizes two main forms of diabetes: type 1 and type 2.

Type-1 diabetes is an autoimmune disease that leaves the body without insulin to regulate the metabolism of sugar. It is the condition, in which the body attacks itself, destroying the pancreatic beta cells that the body needs to regulate blood sugar or glucose. The cells in the pancreas produce insulin, the hormone that regulates blood glucose.

Type 2 is characterized by tissue-wide insulin resistance and varies widely; it sometimes progresses to loss of beta cell function. Types 1 and 2 are incurable chronic conditions, but have been treatable since insulin became medically available in 1921.

Diabetes can cause many complications. Serious long-term complications include cardiovascular disease, chronic renal failure, retinal damage, nerve damage and erectile dysfunction. Type 2 diabetes can lead to kidney failure, amputation and eventually death.

According to the Geneva-based World health Organization’s (WHO) forecast, 6.4% of the global population and 8.4% of the people in the developed countries could suffer diabetes in the year 2030. Between 2000 and 2030, it said the incidence could rise by 39%.