MODY Diabetes

MODY Testing – Caring For the Younger Generation


It was a misconception until the last few years that diabetes only affects the person after a certain age. However, the studies have shown the onset of diabetes in a younger generation as well.  There are various hereditary forms of diabetes caused due to the mutations in a gene. They are called MODY – Maturity–Onset Diabetes of the Young. It is said that approximately 5% of all diabetes cases are MODY. People of Asian Indian descent may have greater chances of MODY compared to the others.

About MODY

MODY is a group of around 6 different genetic defects that damage response to the insulin. Different types of defects have different symptoms based as well as different therapies.

MODY is caused because of the mutations in an autosomal dominant gene that disrupts the insulin production. Whereas type 1 & type 2 diabetes is a result of multiple factors and genes. Some of these types can be treated or managed with changes in lifestyle, some get benefits from sulfonylureas while others need insulin.

HNF1 – alpha, HNF4 – alpha, HNF1- beta, Glucokinase are some of the types of the MODY Diabetes.

Gene Inheritance- MODY
Image credits – halinaking.co.uk
There are differences between how the different versions of MODY manifest. But here are some of the traits several forms of MODY have in common:
  1. People with one of the forms of MODY that primarily affect the secretion of insulin in response to a meal may have near-normal fasting blood sugar test readings and very high post-meal blood sugars.
  2. The age of onset of diabetes in at least one form of MODY is significantly younger if it was the mother who passed on the gene; may be because of the exposure to high blood sugars in the womb affects the expression of the MODY gene in the offspring.
  3. It is a myth that MODY only affects people under 25. It may develop at any age up to 55.
  4. Women with MODY are often first diagnosed during a first pregnancy. Though not obese, they develop gestational diabetes very quickly.
  5. People with MODY often are not insulin resistant.
  6. Some versions of MODY respond very well to drugs that stimulate insulin secretion.
  7. In one common form of MODY, fasting blood sugar is normal, but insulin secretion begins to fail as blood sugars go over 144 mg/dl.
  8. People with some forms of MODY often have subtle or more obvious congenital kidney defects and may even have signs of kidney disease before they are diagnosed with diabetes.

A person diagnosed with Type 1 Diabetes might have MODY if:-

  1. They had diagnosed of diabetes before 6 months of age.
  1. They have a parent with a family history of diabetes. (Only 2% to 4% of people with Type 1 have an affected parent).
  1. They have detectable insulin production three years or more than that after the diagnosis.
  1. They have no immune antibodies to their islet cells, especially at diagnosis.

Most of the times, MODY is misdiagnosed as type 1 or type 2 diabetes because there are no distinct symptoms to distinguish MODY from other types of diabetes. This is where genetic testing plays an important role. Genetic test offers definitive diagnosis for the mutations linked to the disorder.

About the MODY test

MODY is caused by mutations in any one of more than 10 genes while over 20 genes have been associated with monogenic neonatal diabetes. Depending on the genes involved, the course of treatment varies.

The genetic test is very simple – It involves collecting either a blood or saliva sample and sending it to a laboratory for testing.  The sample is used to make DNA and gene sequencing is performed.  The order of bases in a person undergoing genetic testing is compared to the correct order for each gene being tested.  Mutation is considered if there is a difference in the pair.  However, not all mutations will actually cause diabetes. Hence, it is very important to check with the expert if results of genetic testing are really the cause of diabetes.

Because of the high level of precision, genetic testing turns to be very helpful for the patients and helpful for their better future.

Share This:

Personal Genome Analysis – A Test to know yourself better


On April 6, 2003, NBC journalist David Bloom, 39 died after spending long hours in a tank with limited mobility while covering Iraq invasion. Later it was discovered that it was a pulmonary embolism — a blood clot that moved from the leg to the lung. It is caused by a condition called deep-vein thrombosis. He wasn’t aware of the fact that he was genetically predisposed to blood-clots. If he had known about this condition, his life would have been saved with precautionary measures. Knowing your genetic condition is very important, which is highlighted from the above incidence.

DNA in cells governs many of your physical characteristics like height, colour of eyes, texture and colour of hair, and so on. Genes are inherited from the biological parents and that’s how characteristics of your parents and grandparents affect the children. Along with characteristics, other factors like risk to certain physical conditions/ diseases are also caused by genetic predisposition. E.g. Obesity is caused by genetic predisposition in 70% cases. That is why it becomes very important to know and explore your genes.

Genome exploration means revealing the information on one’s genome using the landmarks or Single Nucleotide Polymorphism which would help us reach a particular risk or predisposition. Genomes are the set of genes or genetic material present in a cell.

Genetics is important because of the below mentioned factors-

  • Blue print of our individual existence.
  • Plays crucial role in treatment of various diseases.
  • Genetic diseases which are undiagnosed or diagnosed late.
  • Affects quality of life.

It helps clinicians as they can utilize genetic discoveries to provide efficient drugs and predictive information to create personalized lifestyle management for you. It also develops therapeutics and health management tools to help prevent disease and engage individuals to actively participate in their healthcare decisions.

Genome-wide association study (GWAS) and Indian population

When adapting genome tests for India; diseases, disorders, and other conditions specific for Indian region need to be considered. Beta Thalassemia is the most common genetic disorder. Specific mutations for Beta Thalassemia, which are well known to be present in Indian population, are analyzed.

Next, all the allele frequencies are adapted according to the actual frequencies in Indian population. This was done using the genotyping data, processed till date (more than 1 000 people), for every single mutation. Valid allele frequencies are important as they affect the final risk calculation for development of the disease.

Personal Genetic Analysis is recommended for you if:

You have a family history of certain diseases.

You would like to adjust your lifestyle according to your genes.

You want to know your risks and hidden talents.

You realize that prevention is better than cure.

In the PGA report, your risk of getting a particular condition/disease is given in comparison with the risk in general population. Risk does not mean presence of disease or certainty of developing the disease, because both genetic as well as environmental factors are responsible for the onset of a disease. E.g. Genes influence Iron Metabolism in about 30% of cases while diet and environment influence iron metabolism in 70% cases.

The report also reveals your inherent metabolic response to various food components like carbohydrates, fats, protein and various vitamins.

PGA DTR

 “Our genomes truly are a fundamental part of us. They are what make us human, including the distinctively human ability to learn and create culture. They account for at least half of what makes us different from our neighbors. And though we can change both inherited and acquired traits, changing the inherited ones is usually harder.”– Steven Pinker, Cognitive Scientist.

 

 

 

 

 

Share This: