Know About The gba1 associated diseases And the Latest Treatment Options
Genes are responsible for the variety of traits in each living animal or plant. For instance, the human GBA gene is responsible for providing instructions to make an enzyme called beta- glucocerebrosidase.
- The enzyme is active in the lysosomes. Lysosomes are the cell organelles found in the human body that contain lipolytic enzymes.
- Lysosomes can actively break down the toxic substances and ingest the bacteria with the help of the lipolytic enzyme present within. In fact, lysosomes are called the suicidal bags as they burst open to release the enzymes that digest the toxic substances.
The beta- glucocerebrosidase enzyme is thus, the housekeeping enzyme that will break down the large molecule of glucocerebrosidase into the smaller glucose and ceramide molecules. The large molecule is a component of the cell membrane. The breakdown is necessary when the cell dies as the components undergo recycling. The gba1 associated diseases can cause severe symptoms.
Genetic changes and diseases
A small change in the genetic code can cause much trouble. For example, the genetic change in GBA can cause three diseases that can be life-threatening.
- Gaucher disease
- Dementia with Lewy bodies
- Parkinson disease
Till now, there are reports of more than 380 mutations in the GBA gene that associates with the onset of Gaucher disease. This disorder affects many parts of the human body. The patient will suffer from enlarged liver and spleen (hepatosplenomegaly), abnormalities in blood cells, blood clotting issues, and sometimes, other severe neurological problems.
- The mutation occurs in both the copies of the gene in the cell.
- In maximum GBA gene mutations causing Gaucher disease, there is a change in a single protein-binding block in beta- glucocerebrosidase. It will alter the structure of the enzyme leading to malfunction.
Other mutations will either delete or add genetic materials to the GBA gene. There can be also the production of some abnormally short and non-functional versions of the enzyme.
Dementia with Lewy bodies
A mutation in the GBA gene can increase the chance of developing dementia with Lewy bodies. But not every person with the mutation in the GBA gene needs to develop the condition.
- The symptoms of dementia with Lewy bodies include intellectual decline, sudden mood swings, attention deficit, visual hallucinations, and mobility limitations.
- The rigidity of the limbs and tremors are also the symptoms.
The recent concept of prion disease treatment USA shows a ray of hope as the patients can now look forward to developments from the reversal of the genetic condition.
Most of you know that Parkinson’s disease cause disorders related to movement. But many of you don’t know that the mutations in the GBA gene can be responsible for the disease. The common characteristic features of the condition include
- Continuous tremors in the limbs
- Problems in the balance of the body
- Postural inability
If a person is suffering from Gaucher disease and is a carrier of the GBA gene, then the possibility to develop Parkinson’s disease increases significantly. The Allosteric Drug Discovery USA is a piece of great news for patients suffering from such disorders as the drugs may be able to reverse the conformational change in the enzymes to restore normal functionality.