A Genetic Variant in GOLGB1 Affects Golgi Function and Stroke Risk in Patients with Sickle Cell Disease

Conclusions: Our study has shown that a coding variant in GOLGB1, identified as protective against risk of stroke in patients with SCD, has significant effects on Golgi function in SCD samples. We observed that having the GOLGB1 Y1212C variant resulted in more compact and less fragmented Golgi apparatus. Proteomic analysis showed that SCD patients with the GOLGB1 variant also had significantly lower levels of proteins involved in platelet activation and Golgi trafficking. Our findings suggest a novel role for the Golgi apparatus in controlling protein flux that modulates risk of stroke in SCD.DisclosuresNo relevant conflicts of interest to declare.

Source: Blood - November 21, 2018 Category: Hematology Authors: Kotu, V., Dubrelle, J., Baker, J., Jenson, K., Flanagan, J. M. Tags: 113. Hemoglobinopathies, Excluding Thalassemia-Basic and Translational Science: Poster III Source Type: research