How does genetics influence Parkinson's disease?

Parkinson's disease: Is it genetic?

The first thing we must mention is that Parkinson's disease is multifactorial. The main cause, a deterioration of the cells of the basal ganglia, is due to various reasons, but the main ones are the genetic mutations .

Parkinson's symptoms are varied, as they can manifest differently depending on the individual. However, it's common to experience tremors in the arms, hands, and legs, sudden muscle stiffness, balance problems, and slower movements. Although it's more common in older people, it's not exclusive to them and can also occur in younger individuals.

Now, is this disease is genetics ? The answer is that it is only hereditary genetics in a percentage of Between 10 and 15% . In this case, a genetic origin can be presumed, as there are cases of the problem occurring in the same family. Therefore, carrier testing is a good idea if you have a family member with this condition.

However, between 85 and 90% of cases cannot be attributed to genetic inheritance. In these cases, we usually speak of spontaneous cases of the disease. There is still a vast field of research in this regard, so it is worth considering. After all, genetics has made substantial progress in recent decades in everything related to the diagnosis and causes of diseases.

What are the different mutations that can arise from genetic inheritance? We describe them in detail here...

Genetic Parkinson's disease: main inherited mutations

The Hereditary mutations in Parkinson's disease are numerous, and it's worth understanding them better. And while we can talk about several hundred mutations, the truth is that they are concentrated in certain genes. Here we'll highlight the most common ones in percentage terms. Take note:

1. GBA (glucocerebrosidase)

The lysosomal enzyme GBA It generates fat within cells. Many cases of Parkinson's are linked to mutations in this gene, since if the cell has an abnormal amount of fat or the enzyme doesn't work properly and doesn't break down the substances it's supposed to, the fat degrades.

Therefore, a mutation in this gene is highly dangerous for developing this disease. The associated symptoms in this case would include balance problems or abnormal movements.

2. SNCA (alpha-synuclein)

The alterations in the SNCA protein They are also indicators of a higher likelihood of suffering from hereditary Parkinson's disease. For this reason, it's advisable to check for a mutation in this gene, as there are actually up to 18 different ones that cause Parkinson's.

Basically, the causes we can find in mutations are of two types. First, a mutation that changes, for the worse, the three-dimensional arrangement of proteins. The second mutation duplicates or triples the gene.

3. PARK2

The parkin It is a protein whose alterations increase the likelihood of contracting this disease. However, unlike other mutations, it is common in cases of hereditary premature Parkinson's, even in cases younger than 20 years. It should be noted that there are more than 200 mutations associated with this disease, and it causes approximately 5% of hereditary cases. Therefore, if there are early cases in the family, it is advisable to check for this case first.

If parkin doesn't function properly, the associated problems are numerous: from cellular stress to mitochondrial problems to a buildup of defective proteins. All of this contributes to the development of Parkinson's.

4. PARK7

The protein PARK7 , or DJ-1, is associated with the generation of substances that combat oxidative stress. What happens? If there is any type of mutation, it creates problems with cell regeneration and increases the likelihood of Parkinson's disease. It is estimated that there are approximately 25 mutations that could be related to this disease.

Mutations are basically of two types. Sometimes, they eliminate a large part of the gene and, obviously, modify its function. In other circumstances, the amino acids of the protein are changed. And finally, another possibility is that the size is abnormally reduced.

5. PARK8

The gene PARK8 , or LRRK2, if mutated, alters kinase generation and, therefore, cellular regulatory processes. For this reason, it is associated with hereditary Parkinson's. It is estimated that they cause approximately 5% of hereditary cases. In this case, it is usually inherited by autosomal dominant gene , and is transmitted from parents to children.

When a mutation is present, it can lead to an abnormal accumulation of SNCA, brain inflammation, or mitochondrial problems. In any case, these problems could lead to the disease.

6. PINK1

When there are mutations in the gene PINK1 , there may be problems with the quality and function of mitochondria, a fundamental part of cells. It's no wonder, then, that the chances of developing Parkinson's increase, and in fact, there are 70 different mutations linked to the disease. Furthermore, when the mutation is caused by this gene, cases appear before the age of 45.

Although it's unclear how these mutations would cause cell death, they certainly do. And this, as with other neurodegenerative diseases, will have a progressive effect on symptoms.

7. UCHL1

Finally, mutations in the gene UCHL1 They are especially important in premature Parkinson's , in people under 50 years old. Basically, what happens is that this gene eliminates excess and/or defective proteins and, in the case of mutations, these will remain or accumulate, destroying cells.

Although this mutation is very rare, it can combine with other symptoms of diseases such as dementia or psychosis, making it essential to detect it properly.

In summary…

Parkinson's disease is a genetic condition that sometimes occurs and can be diagnosed with a specific test. This can be used, for example, for diagnosis, but also to determine if your offspring are likely to suffer from this condition. Genotics We'll show you a list of options by type, price, and shipping time. Feel free to ask!