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. 2022 Dec 6;23(23):15369.
doi: 10.3390/ijms232315369.

Genetic Study of Early Onset Parkinson's Disease in Cyprus

Rana Abu Manneh  1   2 , Paraskevi P Chairta  1 , Ellie Mitsi  1 , Maria A Loizidou  2 , Andrea N Georgiou  3 , Yiolanda P Christou  4 , Marios Pantzaris  5 , Eleni Zamba-Papanicolaou  1 , Andreas Hadjisavvas  2
Affiliations

Genetic Study of Early Onset Parkinson's Disease in Cyprus

Rana Abu Manneh et al. Int J Mol Sci. .

Abstract

Parkinson's Disease (PD) is a multifactorial neurodegenerative disease characterized by motor and non-motor symptoms. The etiology of PD remains unclear. However, several studies have demonstrated the interplay of genetic, epigenetic, and environmental factors in PD. Early-onset PD (EOPD) is a subgroup of PD diagnosed between the ages of 21 and 50. Population genetic studies have demonstrated great genetic variability amongst EOPD patients. Hence, this study aimed to obtain a genetic landscape of EOPD in the Cypriot population. Greek-Cypriot EOPD patients (n = 48) were screened for variants in the six most common EOPD-associated genes (PINK1, PRKN, FBXO7, SNCA, PLA2G6, and DJ-1). This included DNA sequencing and Multiplex ligation-dependent probe amplification (MLPA). One previously described frameshift variant in PINK1 (NM_032409.3:c.889del) was detected in five patients (10.4%)-the largest number to be detected to date. Copy number variations in the PRKN gene were identified in one homozygous and 3 compound heterozygous patients (8.3%). To date, the pathogenic variants identified in this study have explained the PD phenotype for 18.8% of the EOPD cases. The results of this study may contribute to the genetic screening of EOPD in Cyprus.

Keywords: Greek-Cypriot Parkinson’s patients; early onset Parkinson’s disease (EOPD); genetic investigation.

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Conflict of interest statement

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results.

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