Thursday, May 2, 2024

Inherited metabolic disorders in Cyprus

Theodoros Georgiou, Petros P. Petrou, Anna Malekkou, Ioannis Ioannou, Marina Gavatha, Nicos Skordis, Paola Nicolaidou, Irini Savvidou, Emilia Athanasiou, Sofia Ourani, Elena Papamichael, Marios Vogazianos, Maria Dionysiou, Gabriella Mavrikiou, Olga Grafakou, George A. Tanteles, Violetta Anastasiadou, Anthi Drousiotou, Inherited metabolic disorders in Cyprus, Molecular Genetics and Metabolism Reports, Volume 39, 2024, 101083, ISSN 2214-4269, doi:10.1016/j.ymgmr.2024.101083. 

The Cypriot population has a unique genetic composition which differs significantly from that of its neighbours. This was the result of enrichment of the local genetic pool by the genes of numerous “visitors” to the island, whether as conquerors (Persians, Arabs, Franks, Venetians and Turks) or as immigrants (Maronites, Armenians). Founder effects have been described for many genetic disorders in addition to Sandhoff's and GM1 gangliosidosis: familial Mediterranean fever, cystic fibrosis, Friedreich's ataxia and 21-hydroxylase deficiency.