Genetic diseases: Huntington's disease

Definition

This time, the post about genetic diseases is dedicated to Huntington's disease (HD), a serious and rare disease. neurological pathology which is genetically inherited and has a degenerative pattern, progressively degrading nerve cells (neurons).

Causes

Huntington's disease is caused by a mutation in the HTT gene, which produces the protein huntingtin found in the nervous system. This defect causes a DNA sequence (specifically, the CAG triplet) to repeat itself more times than normal, resulting in excess glutamine production in the brain.

Genetics of the disease

This genetic defect is located in the chromosome 4. This is an autosomal dominant disorder, meaning a person only needs one copy of the defective gene to develop the disease. In other words, a parent with a defective gene could pass on either the defective copy or the healthy copy, so each of their children has a 50% chance of inheriting it.

Symptoms

Due to brain damage, the symptoms of HD include uncontrolled movements, loss of intellectual ability, and emotional disturbances. After the onset of the disease, people typically worsen progressively, and their life expectancy from the onset of symptoms is between 10 and 30 years.

Diagnosis

Clinically, we can determine if a person is affected by the disease if there are signs and symptoms, such as progressive movement disorders, mental and behavioral changes. The diagnosis can be confirmed through neurological and genetic testing to determine if a person carries the disease gene. A predictive diagnosis is also very important for couples wishing to become parents if there is a family history of the disease. www.genotica.com We have tests that study this disease, such as Huntington's chorea (CAG triplet expansion of the HTT gene) from the Genolife laboratory.

Treatment

There is still no cure for this disease, and treatment focuses on alleviating symptoms. Therefore, early diagnosis is vitally important for patients to improve their quality of life.