THE ESSENTIAL
- Parkinson’s disease usually manifests itself in old age, peaking between 85 and 89 years of age.
- However, there are rare cases before the age of 45.
- According to a new study, these are linked to a mutation in the SGIP1 gene.
Each year, around 25,000 people are affected by Parkinson’s disease in France, according to the National Institute of Health and Medical Research (Inserm). Generally, this degenerative pathology manifests itself at an advanced age, with a peak between 85 and 89 years old. However, even if they are very rare, there are cases before the age of 45, that is to say early forms.
Early-onset Parkinson’s: a mutation in the SGIP1 gene involved
In a new study published in the journal Cell Reports Medicineresearchers have discovered one of the reasons for these early forms of Parkinson’s disease: the mutation of a gene called SGIP1. According to their research, it affects brain cells, impacting the way they communicate.
Scientists discovered the SGIP1 gene mutation during a clinical case. Indeed, in one family, two daughters developed Parkinson’s disease at a very young age. Their neurologist, Professor Ramachandiran Nandhagopal, along with geneticist Dr Patrick Scott, sought to understand the reason for these two early cases within the same family. It was therefore by wanting to provide answers to patients that researchers discovered the mutation in the SGIP1 gene.
To understand the effect of this mutation in the brain, scientists continued their research in the laboratory. In collaboration with the team of Professor Patrik Verstreken at VIB-KU Leuven Center for Brain & Disease Researchthey studied genetic variation using fruit flies.
Synapse dysfunction could explain early cases of Parkinson’s
The insects had the same motor and brain symptoms as Parkinson’s patients. By examining the brain cells of these flies, the researchers discovered that the mutation in the SGIP1 gene impacted the synapses, that is to say the contact region between two neurons which allows them to communicate.
In addition, scientists also observed that the protein recycling and degradation functions of synapses were also impacted. This means that the brain was no longer able to clean the synapses to keep them healthy. Which could be an explanatory factor in the early development of Parkinson’s.
“This work supports the hypothesis that maintaining synapse health is essential for neuron survival throughout life.“, indicates Dr. Marianna Decet, one of the authors of the study, in a press release. According to her, we should further prevent the appearance of neurodegenerative diseases by paying attention to the proteins in the synapses.
“The discovery of this mutation in the SGIP1 gene is exciting because it offers a new perspective on how neurological disorders develop, indicates Sabine Kuenen, another author of the study. It reminds us that even small changes in our genetic code can have a profound impact on brain function.”
Further studies need to be conducted to better understand the impact of SGIP1 gene mutation in the early development of Parkinson’s disease.
