The genetics of transient neonatal diabetes
Identifying genetic factors at the 6q24 TND1 locus that impact on short and longer-term glycaemic control
- Dr Deborah MacKay of the University of Southampton
- £112,514; Two-year project grant
- September 2012 – September 2014
Background to project
Most forms of diabetes have complex origins and are triggered by multiple genetic and environmental factors. Transient neonatal diabetes (TND1) is a very rare, inherited form of diabetes that affects newborn babies. It is caused by mutations that disrupt the regulation of PLAGL1, a gene found on chromosome 6 that is important for control of blood glucose. After developing diabetes as newborns, people with TND1 often develop a condition similar to Type 2 diabetes as adults.
In 2008, the Wessex Regional Genetics Laboratory in Salisbury used funding from Diabetes UK to establish the first registry of people with TND1. Now the lab is recognised as an international leader in TND1 research and has the world’s largest collection of data on people with this condition.
Project aims
With renewed support from Diabetes UK, Dr Deborah MacKay and her team will support the diagnosis and management of TND1 globally and expand their registry of people with the condition in order to improve characterisation of this rare condition and our understanding of what is involved.
The researchers will also use advanced genetic techniques to link the specific features and consequences of TND1 to key mutations in genes and gene regulatory factors, helping them to work out what has gone wrong and how things should work normally.
Potential benefit to people with diabetes
By improving our knowledge of the genetic causes of TND1 the researchers will be better able to understand this condition and other more common forms of diabetes.
The researchers will also continue to assist with the diagnosis, support and education of families affected by this disorder, opening the way to well-timed and appropriate treatments that reduce the need for unnecessary and invasive testing and provide relief from anxiety.
In the longer term, information on genetic mutations could help the researchers to develop new insights into the body’s control of blood glucose and the creation of new treatments.