Growth differentiation factor-15 polymorphism and iron statusin thalassemic patients / Mohamed Abdelmohsen Abdellatif ; Supervised Ilham Youssry Ibrahim , Rania Mohamed Samy , Niveen Mohamed Salama

Thesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics

Growth differentiation factor-15 (GDF15), a TGF-Ý superfamily member, isstrongly involved in the iron overload observed in thalassemia patients. GDF15 isencoded by a gene that is located on chromosome 19, in which polymorphismsare proved to regulate serum GDF15 levels (Wang et al., 2010). Several studieswere performed on patients with prostate cancer to assess GDF15 levels.Theyconcluded that GDF 15 levels were mainly regulated by two polymorphisms,rs888663 and rs1054564 (Brown et al., 2009). Ho and his colleagues conducted astudyto assessthevariationsof GDF15concentrationsandfoundthatupto 38%ofthesevariationsareinfluenced bydifferentgenetic elements GDF15 is synthesized as a precursor propeptide of 40-kDa. Before being releasedinto the peripheral circulation, it is cleaved into its mature form of 25-kDa weight(Eling et al., 2009). GDF15 was initially considered to be a macrophage inhibitor,however further investigations suggested that it may have different other roles.Different conditions like anoxia, malignancy, and tissue injury may have a role inincreasing the production of GDF 15 levels. This theory is strongly evident by thefactthattumorsuppressorp53targetsGDF15

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