As with adult-onset diabetes, PNDM
is characterised by a deficiency of the hormone insulin, produced by the
pancreas. Added complications that can occur in PNDM include muscle weakness, developmental
delay and epilepsy.
The researchers looked at the DNA
of 147 people with PNDM. Of those, 110 were found to carry mutations already identified as causing the condition. For the remaining participants, the researchers looked at genes already known to affect pancreatic development in mice. This additional analysis
gave genetic diagnoses to 11 out of the remaining 37 participants, showing
mutations in the genes NKX2-2 and MNX1 to be the cause in five subjects.
Sarah Flanagan, the paper's lead author, from the University of Exeter said the
findings were 'critical
to the advancement of knowledge on how insulin-producing beta cells are formed
in the pancreas, which has implications for research into manipulating stem
cells, which could one day lead to a cure'.
Alasdair Rankin, director of research for Diabetes UK, agreed that the paper 'helps us understand how
the pancreas develops'.