A study published this month in the journal Nature announced the discovery of a genetic variation that raises the likelihood of a child developing type-1 diabetes. The researchers, based at the Children's Hospital of Philadelphia and McGill University in Montreal, say that the finding could provide clues to the prevention of type1 diabetes in children who carry the variant, known as KIAA0350.
There is currently no cure for Type 1 diabetes, which affects 350,000 people in the UK. The disease, which most commonly affects young people, develops when, for unknown reasons, the body's own immune system mistakenly attacks and destroys the insulin-producing cells in the pancreas. Affected patients have to inject themselves daily with insulin to maintain normal glucose levels in their blood.
With a better understanding of the genetic basis of Type 1 diabetes, which often runs in families, the researchers believe prevention may be possible. 'If we know the gene pathways that give rise to type-1 diabetes, we hope to intervene early in life with targeted drugs or cell therapies to prevent the disease from developing', says Constantin Polychronakos, Director of Paediatric Endocrinology at McGill University and senior author of the study. Such understanding may one day make it possible to screen newborns to identify those at risk from the disease, he suggests.
In the search for the gene, the team scanned the whole genome of 563 children with Type 1 diabetes and compared them to 1,146 healthy children. To double check their results, they compared their findings with another similar study by the Type 1 Diabetes Genetics Consortium.
As well as confirming four regions of the genome already suspected to confer Type 1 diabetes, the researchers also discovered a region containing a completely new diabetes gene, KIAA0350. Scientists do not yet know the exact function of the protein the gene encodes, say the researchers.
'The role of KIAA0350 needs to be investigated', says the study's lead authorr Hakon Hakonarson, Director of the Centre for Applied Genomics at The Children's Hospital of Philadelphia. The KIAA0350 gene is highly active in so-called 'natural killer' (NK) cells, so one possibility is that a particular mutation in the gene may trigger these cells to destroy the insulin-producing cells in the pancreas, causing Type 1 diabetes, believes Dr Hakonarson.
KIAA0350 is just one of 15-20 genes that the researchers expect have a role to play in the development of Type 1 diabetes. The next step will be to carry out further investigations to develop an understanding of the 'gene network' that may be behind Type 1 diabetes.