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Frequency of Parkinson's Disease Genes and Role of PARK2 in Amyotrophic Lateral Sclerosis: An NGS Study
| Content Provider | MDPI |
|---|---|
| Author | Vacchiano, Veria Bartoletti-Stella, Anna Rizzo, Giovanni Avoni, Patrizia Parchi, Piero Salvi, Fabrizio Liguori, Rocco Capellari, Sabina |
| Copyright Year | 2022 |
| Description | Amyotrophic lateral sclerosis (ALS) and Alzheimer’s disease (AD) patients show a higher prevalence of Lewy body disease than the general population. Additionally, parkinsonian features were found in about 30% of ALS patients. We aimed to explore the frequency of Parkinson’s disease (PD)-causative genes in ALS patients, compared to AD and healthy controls (HCs). We used next-generation sequencing multigene panels by analyzing SNCA, LRRK2, PINK1, PARK2, PARK7, SYNJ1, CHCHD2, PLA2G6, GCH1, ATP13A2, DNAJC6 and FBXO genes. GBA gene, a risk factor for PD, was also analyzed. In total, 130 ALS and 100 AD patients were investigated. PD-related genes were found to be altered in 26.2% of ALS, 20% of AD patients and 19.2% of HCs. Autosomal recessive genes were significantly more involved in ALS as compared to AD and HCs (p = 0.021). PARK2 variants were more frequent in ALS than in AD and HCs, although not significantly. However, the p.Arg402Cys variant was increased in ALS than in HCs (p = 0.025). This finding is consistent with current literature, as parkin levels were found to be decreased in ALS animal models and patients. Our results confirm the possible role of PD-related genes as risk modifier in ALS pathogenesis. |
| Starting Page | 1306 |
| e-ISSN | 20734425 |
| DOI | 10.3390/genes13081306 |
| Journal | Genes |
| Issue Number | 8 |
| Volume Number | 13 |
| Language | English |
| Publisher | MDPI |
| Publisher Date | 2022-07-22 |
| Access Restriction | Open |
| Subject Keyword | Genes Cell Tissue Engineering Amyotrophic Lateral Sclerosis Parkinson's Disease Pd-related Genes Gba Neurodegenerative Diseases Alzheimer's Disease |
| Content Type | Text |
| Resource Type | Article |
