Genetic anomalies often cause serious health problems, for example, Tay-Sachs disease. The discovery of this abnormality is due to two doctors, Warren Tay and Bernard Sachs, who studied, in different years, some symptoms of the disease that today bears their names.
This incurable disorder is an autosomal recessive inheritance that leads to a deficiency in the enzyme known as hexosaminidase A. This disease is relatively high in the population of Ashkenazi Jews (Central and Eastern European Jews).
The lack of hexosaminidase THE causes the G gangliosideM2 (component of the neuron membrane) is not hydrolyzed, thus becoming accumulated in the nervous tissue. The consequence of this accumulation is a continuous degeneration of this tissue.
In the infantile form, Tay-Sachs disease starts its symptoms from 3 months of age, and it first manifests itself with a red spot in the eyes and a slight motor weakness. As it is a degenerative disease, other symptoms slowly appear.
Around the 6th and 10th month of age, the child does not acquire new motor skills and it is common for him to lose the skills he had. Then begins a loss of peripheral vision, coordination, ability to respond to environmental stimuli, inability to swallow and breathing difficulties.
The disease progresses until the carrier becomes completely blind, mentally retarded and completely paralyzed, living in a vegetative state. It is common for death to occur up to four years of age, usually associated with a case of bronchopneumonia.
There is also the juvenile form of the disease, which is characterized by lack of coordination of movements starting between 2 and 10 years of age. As in the infantile form, there is a regression in the development of the child's vital activities. Seizures are common and the vegetative state develops around the tenth year of life. Death is expected a few years later.
The adult form is characterized by slow neurodegeneration associated with low activity of the hexosaminidase A enzyme. Symptoms can appear until the end of the first decade of life and are varied and very slow compared to other forms of the disease. This is due to the fact that there is still little enzymatic activity. In this form, some psychiatric disorders, such as depression, are common.
Diagnosis is made in the laboratory by analyzing the amount of the enzyme hexosaminidase A. This disease has no cure and its treatment is not effective, being carried out to improve the patient's quality of life, reducing, for example, seizures and other symptoms.
It is important that genetic tests are carried out to detect the mutation, especially in groups with a higher incidence (such as Jews). In case of mutation, a genetic follow-up is necessary.
by Vanessa dos Santos
Graduated in Biology
Source: Brazil School - https://brasilescola.uol.com.br/biologia/doenca-tay-sachs.htm
