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Nutrigenetics, obesity, diet and diabetes

Depending on our patients’ needs, we offer various genetic tests such as analyses on the genes affecting your fitness and nutrition, predisposing genes for obesity, tendency for diabetes, and various types of food intolerances.


Why is it important to have your nutrigenetics profile determined?

Obesity is a pathological condition in which excess fat is accumulated in the body to the point that it can have a negative effect on our health. It increases the likelihood of developing cardiac and cardio-vascular diseases, type II diabetes, obstructive sleep apnea, several types of cancer, and osteoarthritis. Obesity is usually caused by a combination of excessive food intake, lack of physical activity, and genetic predisposition.

In some people, the accumulation of fat in the body comes mainly from from a diet rich in carbohydrates, and in others from a high-fat diet. How we react to certain food and physical activity is mostly determined by a complex interaction of genetics, the environment and our lifestyle. The individual’s tendency towards favoring a certain type of macronutrient over the others is determined by the genetic constitution and the variations in certain genes. Knowing the variations in those genes can help us create the proper macronutrient ratio which will allow us to individually tailor a diet, knowing which types of food we should avoid or limit and what in kind of physical activity we should engage in. This information is necessary in order to trigger the mechanism of fat burning in our body as well as to achieve and maintain ideal body weight.

What are the aims of the nutrient tests?

    • Identification and determination of the individual response to different foods
    • Optimization of the type of diet, as well as the type of physical activity
    • Prevention of diseases associated with obesity
  • Maintaining the organism in a healthy state

GENE MARKERS: Quantitative PCR is used to detect mutations in the FTO, PPARG, FABP2, ADRB2, ADRB3 which are involved in the metabolism of nutrients. The results obtained from such analyses can be used for recommendation of optimal diet.


Maturity-onset diabetes of the young (MODY)

Maturity-onset diabetes of the young, or MODY, is a form of diabetes caused by mutations in a number of different genes. Each mutated gene causes a slightly different type of diabetes. MODY is often referred to as “monogenic diabetes” to distinguish it from the more common types of diabetes (especially type 1 and type 2), which involve more complex combinations of causes involving multiple genes and environmental factors. Although MODY is typically diagnosed in late childhood, adolescence, or early adulthood, it can develop in adults as late as their 50s. Many people with MODY are misdiagnosed as having type 1 or type 2 diabetes. However, a clear diagnosis of MODY could change the course of treatment and could help to identify other family members with MODY. People with MODY often have symptoms or lab results that are unusual for type 1 or type 2 diabetes.

GENE MARKERS: Next generation sequencing (NGS). is used to search for mutations in the genes ABCC8, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11.


Gluten intolerance and Coeliac Disease

Coeliac disease, also called coeliac sprue, is one of the most common enteropathogenic diseases and it is characterized by a lifelong hypersensitivity to gluten proteins found in wheat, rye, oat and barley. Until recently, celiac disease was  considered relatively uncommon with an estimated prevalence rate ranging from 1 in 1000 to 1 in 4000 people. However, the availability of new serologic tests have led to the observation that coeliac disease is much more common, affecting about 1 of 100-400 persons in Europe, the majority of patients showing little clinical symptoms.

Considerable evidence now indicates that coeliac disease has a strong genetic component. Coeliac disease is a multifactorial disorder associated with HLA-DQ2 (DQA1*05/DQB1*02) or DQ8 (DQA1*0301/DQB1*0302) or HLA-DRB1*04. HLA DQ2 is expressed in the majority (>90%) of those with coeliac disease and DQ8 in about 8%. The expression of these HLA-DQ2 or DQ8 molecules is necessary, but not sufficient to develop coeliac disease and accounts for only about 50% of the genetic component of the disease. About 95% of all coeliac patients possess this particular genotype compared to approximately 20% of the normal population. From this point of view absence of these alleles is useful in excluding coeliac disease. However, at least one other non-HLA gene and some environmental factors are also likely to be involved in the disease. On the basis of recent results the analysis of HLA-DQ2 (DQA1*05/DQB1*02) and DQ8 (DQA1*0301/DQB1*0302) alleles is sufficient to exclude coeliac disease.

GENE MARKERS: Quantitative PCR is used to check the HLA-DQ2 (DQA1*05/DQB1*02) and DQ8 (DQA1*0301/DQB1*0302) alleles.

Lactose intolerance

Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in the lining of the small intestine. The LCT gene provides instructions for making the enzyme lactase and individuals who have mutations in this gene have reduced or completely absent production of this enzyme.

People who are lactose intolerant may experience abdominal pain, bloating, faltulence, nausea and diarrhea, starting from 30 minutes to 2 hours after consumption of milk and dairy products.

GENE MARKERS: Quantitative PCR is used to check the 13910C>T variation in the LCT gene.

Fructose intolerance

Hereditary fructose intolerance is a condition that affects a person’s ability to digest the sugar fructose. Fructose is a simple sugar found primarily in fruits. Affected individuals develop signs and symptoms of the disorder in early childhood and infancy when fruits, juices, or other foods containing fructose are introduced into the diet. After ingesting fructose, individuals with hereditary fructose intolerance may experience symptoms such as nausea, flatulence, abdominal pain, diarrhea, vomiting and low blood sugar (hypoglycaemia). Affected infants may fail to grow and gain weight at the expected rate (failure to thrive).

Repeated ingestion of fructose-containing foods can lead to liver and kidney damage. The liver damage results in yellowing of the skin and the eyes (jaundice), enlarged liver (hepatomegaly), and chronic liver disease (cirrhosis and liver failure). Prolonged exposure to fructose may result in seizures, coma, and ultimately death from liver and kidney failure. Due to the severity of symptoms experienced when fructose is ingested, most people with hereditary fructose intolerance develop a dislike for fruits, juices, and other foods containing fructose.

GENE MARKERS: Quantitative PCR is used to test three variations (ALA149PRO, ALA174ASP and ASN334LYS) in the ALDOB gene.

Other types of intolerance tests

Food intolerance is a harmful, often delayed reaction to food, beverages, food supplements or other ingredients found in food and drinks. After consumption these intolerant individuals often develop symptoms in one or more system, but generally food intolerance refers to reactions that are not the same as the true food allergy that is a serious and life-threatening reaction. Food intolerances and food allergies are two different groups of hypersensitivity reactions that occur after the consumption of a particular type of food, and it is therefore very important that these two groups of reactions are not confused or interchanged with one another.

As a consequence of the body’s inability to fully digest a certain type of food, intolerance occurs in these individuals. This food is only partially digested, broken down into macromolecules that enter the circulatory system, moving through the body and causing hypersensitivity reactions. People with food intolerance may experience symptoms such as gastrointestinal problems, gastritis, water retention, fatigue, headaches, skin reactions and acne, myalgia, joint pain, weight problems, abdominal pain, constipation, diarrhea, duodenal ulcer, flatulence, abdominal cramps, and a feeling of nausea.

• Food intolerance – antigen detection test for 45 food products
• Food intolerance – antigen detection test for 90 food products
• Food intolerance – antigen detection test for 120 food products