In order to treat patients with diabetes in the best possible way it is
necessary to understand the disease mechanism. MODY type 3 (MODY3) is a
monogenic hereditary form of diabetes, that is caused by a genetic defect
in the HNF1A gene.Maturity onset diabetes of the young (MODY) is a rare monogenetic form of
diabetes which accounts for 1-2% of diabetes cases. Researcher Henrik Semb
and his team used patient-derived stem cells to investigate why mutations
in HNF1A progressively lead to diabetes in MODY3. The scientists identified
a new pathogenic mechanism for diabetes onset in MODY3.The phenotype of MODY3 patients is very heterogeneous, which is reflected
by, among other things, a highly variable age at disease onset.
Hyperinsulinemia is a condition with abnormally high concentration of
insulin in the blood. This leads to reduced blood sugar levels, which if
too low may be life-threatening.Scientist Henrik Semb paved the way for
further investigations to test if treatments to prevent hyperinsulinemia –
such as diets or drugs – in newborns carrying HNF1A mutations will delay or
even prevent the onset of MODY3 diabetes later in life.
necessary to understand the disease mechanism. MODY type 3 (MODY3) is a
monogenic hereditary form of diabetes, that is caused by a genetic defect
in the HNF1A gene.Maturity onset diabetes of the young (MODY) is a rare monogenetic form of
diabetes which accounts for 1-2% of diabetes cases. Researcher Henrik Semb
and his team used patient-derived stem cells to investigate why mutations
in HNF1A progressively lead to diabetes in MODY3. The scientists identified
a new pathogenic mechanism for diabetes onset in MODY3.The phenotype of MODY3 patients is very heterogeneous, which is reflected
by, among other things, a highly variable age at disease onset.
Hyperinsulinemia is a condition with abnormally high concentration of
insulin in the blood. This leads to reduced blood sugar levels, which if
too low may be life-threatening.Scientist Henrik Semb paved the way for
further investigations to test if treatments to prevent hyperinsulinemia –
such as diets or drugs – in newborns carrying HNF1A mutations will delay or
even prevent the onset of MODY3 diabetes later in life.
