The great challenge is to discover drugs that slow down the progression of the disease, but many clinical studies so far have failed because Parkinson’s can have causes linked to different biological mechanisms. Like the GBA gene mutation
I am 50 years old and have had Parkinson’s for three years. Genetic tests show that I have a GBA mutation. I was included in a trial: the doctors say that the disease could be stopped or even reversed with a new therapy. What do you think about it?
He replies Daniela Calandrellaneurologist, Graubünden Foundation for Parkinson’s Disease (GO TO THE FORUM)
Parkinson’s disease is the second most common neurodegenerative disease Its prevalence is expected to double in the next 30 years. An accurate diagnosis is often challenging, particularly in the early stages of the disease. Recent developments in research also include the study of prodromal phase (which anticipates the appearance of motor symptoms such as tremor, rigidity and bradykinesia) and the identification of genetic subtypes and a growing number of Genetic variants associated with Parkinson’s risk. In fact, the great challenge is to discover drugs that slow down the progression of the disease (disease-modifying treatment), but many clinical trials with this goal have so far failed probably because Parkinson’s can have causes linked to different biological mechanisms.
Studies in progress
In support of this hypothesis there is the discovery of gene mutations that contribute to the risk of Parkinson’s, among which mutations in the glucosylceramidase beta (GBA, now GBA1) genewhich, together with those of the gene LRRK2, are present in a significant percentage (up to 40% in some populations) of people diagnosed with Parkinson’s. The genetic mutations that may be present within our DNA are divided into mutations responsible for disease and mutations that increase the risk of the appearance of the disease itself, such as those of the GBA1 gene, which today represent the most common genetic risk factor for Parkinson’s and are the target of some important clinical studies, involving patients with these mutations, such as the study in which you will participate. These studies aim to evaluate the capacity of some old molecules (like ambroxol) and other new molecules (such as allosteric GCase activators, for example) to slow disease progression.
Genetic testing
Patients carrying mutations of the GBA1 gene often have peculiar clinical characteristics, such as an earlier onset of the disease and a slightly more rapid evolution of the symptoms, both motor and non-motor. Furthermore, some research groups, including ours, have studied different mutations affecting the GBA1 gene and clearly seen that these have different impacts, in terms of penetrance (i.e. the frequency with which, given a certain mutation, a certain type of disease occurs), onset, progression of the disease, as well as the presence or absence of any complications. With the increase of this type of studies, on which we have many expectations, the delicate topic of increasing access to genetic counseling and genetic testing (via a simple venous blood sample) for Parkinson’s patients will be important from several points of view: prognostic, clinical and therapeutic.
October 6, 2023 (modified October 6, 2023 | 07:47)
© ALL RIGHTS RESERVED
#Parkinsons #GBA #gene #mutation #key #development #therapies