Treatment Of Patients With A Nonsense Mutation In The X-Linked Intellectual Disability CUL4B Gene With G418
School Name
South Carolina Governor's School for Science and Mathematics
Grade Level
12th Grade
Presentation Topic
Cell and Molecular Biology
Presentation Type
Mentored
Abstract
Patients affected by a nonsense mutation of the CUL4b gene suffer from X-Linked Intellectual Disability. Lymphoblast samples of affected people were grown and treated with G418. The G418 treatments were done at various concentrations to force the cells to produce the full length Cullin-4b protein. The samples did show production of CUL4b. However, if they are functional could not be determined. Further trials need to be done to see if the treatment is worth the side effects. The samples were able to produce the protein, and any presence of Cullin-4b could be beneficial
Recommended Citation
Ali, Aon, "Treatment Of Patients With A Nonsense Mutation In The X-Linked Intellectual Disability CUL4B Gene With G418" (2015). South Carolina Junior Academy of Science. 119.
https://scholarexchange.furman.edu/scjas/2015/all/119
Start Date
4-11-2015 2:30 PM
End Date
4-11-2015 2:45 PM
Treatment Of Patients With A Nonsense Mutation In The X-Linked Intellectual Disability CUL4B Gene With G418
Patients affected by a nonsense mutation of the CUL4b gene suffer from X-Linked Intellectual Disability. Lymphoblast samples of affected people were grown and treated with G418. The G418 treatments were done at various concentrations to force the cells to produce the full length Cullin-4b protein. The samples did show production of CUL4b. However, if they are functional could not be determined. Further trials need to be done to see if the treatment is worth the side effects. The samples were able to produce the protein, and any presence of Cullin-4b could be beneficial
Mentor
Mentor: Anand Srivastava, JC Self Research Institute of Human Genetics, Greenwood Genetic Center