Ferroportin Q248H Mutation Leads to a Moderate Iron Load in Mutant Slc40a1Q248H/Q248H Mice
| dc.contributor.advisor | Nekhai, Sergei | |
| dc.contributor.author | Alhakami, Fatemah | |
| dc.date.accessioned | 2023-05-09T06:24:09Z | |
| dc.date.available | 2023-05-09T06:24:09Z | |
| dc.date.issued | 2023-04-25 | |
| dc.description | PN Q248H male and female mice were used for systemic iron analysis. Twenty-three weeks old homozygous and WT mice were fed standard or 2% carbonyl iron diet (high iron diet). ELISA was used to measure total iron, ferritin, and transferrin saturation. CBC parameters were measured on an automated veterinary hematology counter Sysmex XN-1000 (Sysmex ‐ Roche). Real time PCR and Western blot were used for the expression analysis of FPN, and transferrin receptor (TFR). Iron deposition was determined by Perl’s staining in the spleen and liver tissues. Age-matched WT and FPN Q248H mice were used the analysis of biological and molecular changes. | |
| dc.description.abstract | Deregulation of iron export by ferroportin (FPN) and FPN-binding peptide, hepcidin, is linked to elevated intracellular iron1,2. FPNQ248H mutation prevalent in African Americans (2.2%-13.4% frequency) is linked to elevated iron levels in Zimbabwean children and increased inflammation in patients with Sickle Cell Disease 3,4. Thus, understanding the mechanism of iron regulation by FPNQ248H mutation is essential for better treatment of iron disorders in African Americans. We hypothesized that FPNQ248H mutation leads to again-of-function and causes systemic iron overload. | |
| dc.format.extent | 94 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14154/68003 | |
| dc.language.iso | en | |
| dc.subject | FPNQ248H mutation | |
| dc.title | Ferroportin Q248H Mutation Leads to a Moderate Iron Load in Mutant Slc40a1Q248H/Q248H Mice | |
| dc.type | Thesis | |
| sdl.degree.department | Genetics | |
| sdl.degree.discipline | Iron metabolisom | |
| sdl.degree.grantor | Howard Univeristy | |
| sdl.degree.name | Phd |