Monogenic Diabetes: The Not-So-Typical Genetic Form of Diabetes

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Monogenic Diabetes The Not-So-Typical Genetic
form of Diabetes
Submitted By University of Chicago Medicine
Kovler Diabetes Center
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• It is a common notion for all of us to fall for
  the fact that Diabetes runs hereditarily in a
  large number of families.However, one cannot deny
  the fact that people are still ignorant to those
  multiple genes present in our body increasing the
  risk of Diabetes Mellitus (Type 1 and Type 2).
  Also, this turns out to be the reason why
  Diabetes is being labeled as a polygenic disease.

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• With the evolution moving forward at its own
  pace, now, even a single gene getting mutated can
  lead to a lesser known form of Diabetes known as
  Monogenic Diabetes. Though much is not heard
  about the disease, but a large number of diabetic
  patients seem are already diagnosed with it- from
  1 to 5 to be precise. According to the Kovler
  Monogenic Diabetes Registry, the younger lot is
  more likely to suffer from this disease, that is
  infants, children or even young adults are easily
  getting prone to Monogenic diabetes.
• The sad part of the story is that nearly 80 of
  the cases go undiagnosed due to inattentiveness
  and lack of information.Although Monogenic
  diabetes is an uncommon disease, it should not be
  taken lightly at all, for if left untreated, can
  cause some serious health problems. Many times,
  the Monogenic diabetes symptoms are often
  mistaken for the symptoms of Type 1 Diabetes,
  which is even more dangerous as mistreating the
  disease can increase up to the risk
  factor.However, unlike the latter one, some forms
  of Monogenic diabetes can be merely treated with
  drugs rather than injecting them with some form
  of insulin.

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• What is Monogenic Diabetes?

• Monogenic diabetes does not account simply as a
  manifestation of insulin resistance. Remember
  that, Monogenic diabetes is not just a word, but
  it is a phrase that collectively describes a
  large number of rare but hazardous diabetic
  disorders, all of this by a mere mutation that
  can occur in any gene even remotely connected
  with the regulation of the sugar metabolism of
  the human body.
• The diabetes research centers have identified
  nearly 30 different genes in which this mutation
  can take place.Thus, identifying the mutated gene
  surely comes up as a difficult task for the
  doctors as it plays a key role in looking out for
  the exact symptoms and then in the later phase
  where the treatment has to be decided.

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• However, for the sake of simplicity, Monogenic
  diabetes has been classified into two forms
• Neonatal Diabetes Mellitus(NDM)
• NDM is a disease that the infant is likely to
  face from the first six months of his life which
  challenges his ability to produce or utilize
  insulin.
• 2. Maturity Onset Monogenic Diabetes(MODY)
• MODY refers to the type of the hereditary form of
  diabetes that is caused by the mutatitons in the
  autosomal dominant genes that are responsible for
  insulin production.

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• Monogenic Diabetes Treatment

• As discussed earlier, once the gene is
  identified, it becomes easier for the doctors to
  plan the treatment. Thus, they resort to genetic
  treatment as the best solution for diagnosing.
  But, it is not suitable for a large number of
  patients as not only is it an expensive
  procedure(costing nearly 1000), also it is not
  backed up by the insurance companies thus raising
  up the expense quotient a bit higher.

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• Pediatricians often recommend getting the babies
  tested if they have been facing high blood sugar
  levels for a longer period of time.However,
  nearly 50 of the MODY children go undiagnosed,
  for it is almost impossible to identify the
  disease without the classic symptoms.
• Treatment of this disease varies from person to
  person. Some of them can be cure with the help of
  routine exercises and drugs, or even insulin
  injections can create wonders.However, a patient
  may need to get himself treated for related
  conditions such as Gout and kidney cysts.(This
  happens only in some rare forms of MODY and
  chances of this are almost negligible)

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• Hereditary Effects

• As we know that, any form of diabetes is a
  hereditary disease.Thus, If the parent is
  suffering from any form of Monogenic diabetes,
  there is a strong probability of his child to
  suffer from the same at an early age.Thus, talk
  to your doctor about if anyone from your family
  is suffering from this rare disease and if
  recommended, get your children tested as well.
• Summary The following content describes about
  the Monogenic Diabetes, lack of awareness about
  it and some common diagnostic methods also
  highlighting its types and symptoms.

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University of Chicago Medicine Kovler Diabetes
Center
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