- Gene signature
which involves over 80 gene variations present in multiple genes has been
- The gene
variations affects the binding of the regulatory factor X (RFX) which
leads to an imbalance in the blood sugar
- The gene
signature may be used for personalized care for diabetics
been a mystery to most scientists who have tried to understand why some people
develop this disease while others don't. 80 small variations in the genes carried
by people have been identified, while certain variations are associated with
the increase in risk for this disease, other variations are found to protect
people from the damaging effects of high blood sugar. This is the first study
to identify " Type 2 diabetes
research team has now discovered that variations in many genes could lead to
the development of this disease. The variations in certain genes are found to
alter the way the genes are read by the pancreas. The study was published in
the journal Proceedings of the National
Academy of Sciences
and includes scientists from The University of North
Carolina, National Institutes of Health, the University of Michigan, the
University of Southern California and the Jackson Laboratory for Genomic
‘Early prediction of diabetes using gene signature will revolutionize diabetes care.’
identification of the gene signature could aid in providing personalized
treatment for diabetes and to assess risk for the disease.
scientists have discovered that the binding of regulatory Factor X (RFX), which
is found to be the master regulator of many genes, is affected. This is the
first study that has shown that alterations in many DNA-associated genes are
linked to the same DNA-reading molecule.
findings of the study are that
- Many variations in the genes associated
with diabetes alter the ability of RFX to bind to certain regions of genomes of
- This affects the ability of these
pancreatic cluster cells (islets) to perform their functions.
islets are important for maintaining blood sugar levels of people as they
secrete hormones like insulin
and glucagon. Among diabetics, the blood
sugar maintenance is affected which results in other associated health
Medical School's, Dr. Stephen C.J. Parker who is an assistant professor of
computational medicine and bioinformatics said that the subtle changes in DNA
could increase the risk for Type 2 diabetes which affects the common regulatory
pathway among the islet cells. The RFX does not understand the variations in
the gene which disrupts the regulatory pathway, paving the way for increased
genetic risk for Type 2 diabetes.
research team analyzed the DNA from islet samples of 112 people. They studied
- Differences in
factors that include DNA packaging
- Expression levels
would aid in identifying the translation pattern of genes. The "footprints" of
RFX could be identified. The RFX was found to attach to a region just ahead of
the gene associated with diabetes, a short length of DNA close to the gene.
variations in the gene that have been associated with diabetes result in a
disruption of this stretch of DNA, preventing the binding of RFX. Every change
in the DNA results in changes in the way the RFX binds, which in turn affects
the regulation of blood sugar in the body. The most significant factor is that
there were changes in the area where RFX is believed to bind to that of the
cells in the islets.
study showed how alterations in the gene influence the epigenome or the factors
that affect gene expression.
research team involved in the study believe that the Mitchell-Riley syndrome, a
severe form of diabetes that occur in a small percentage of babies born every
year may be associated with mutations in RFX. This condition, inclusive of
is characterized by the malformed pancreas, and
caused by an autosomal recessive mutation found in certain forms of RFX.
Benefits of Using Gene Signature for Diabetes
are many benefits associated with using biomarkers or gene signatures for
prediction of diabetes.
- They aid in
learning about the disease pathways which can be used to limit the risk of
complications associated with the disease like diabetic ketosis
- Early detection
can be used to prevent diabetes entirely.
- Gene screening
will limit the need for unnecessary biochemical tests
strategies can be adopted by people at high risk
gene signature that has been identified for diabetes will aid in personalizing
treatment and care. People who are highly prone to diabetes can now modulate
their lifestyle factors to minimize risk.
- Predicting Type 1 Diabetes Using Biomarkers - (http://care.diabetesjournals.org/content/38/6/989)