D128N Mutation in GFAP gene
As it has already been studied that mutation occur at various locations on the GFAP gene, it depends on the specific point where it occurs that could result in severe consequential neurodegeneration. The mutations on the GFAP gene has already contributed for about 96% of all the cases of Alexander’s. Various other side effects that could be seen with the onset of Alexzander’s disease are GFAP aggregation, astrocyte degradation, glial injury etc. This specific mutation was identified in the late 1940’s with a hip pain and mild fever (56year old patient). It is important to remember that the severity of the disease depends on the age factor. It is subcategorized based on the age as infantile, juvenile, adult. Infantile …show more content…
These mutations are hard to be identified in the patient as they can reside by the non-coding regions of the gene. For example, three different patients with unique characteristics were analyzed for the study. Patient one has a non-coding mutation. Patient two has insertion and deletion type of mutation at the end of the coding region. Patient three has a single base deletion at the C-terminal resulting short frameshift. To identify the functional mutant type protein, both the wild type and mutant type protein were transfected into SW13 cells, that lack the cytoplasmic intermediate vectors. The wild type formed a complete filamentous network whereas the mutant GFAP produced uniquely different style of protein clumps. In addition, co-transfection was performed to check the dominance of mutant GFAP protein. These new findings provide an insight to having a closer look on frameshift mutations on GFAP, that could have missed by residing in the non-coding region of the GFAP gene. It also focuses on the inclusion of splice site regions in the sequencing analysis. That way these frameshift mutations could be identified in the clinical
As it has already been studied that mutation occur at various locations on the GFAP gene, it depends on the specific point where it occurs that could result in severe consequential neurodegeneration. The mutations on the GFAP gene has already contributed for about 96% of all the cases of Alexander’s. Various other side effects that could be seen with the onset of Alexzander’s disease are GFAP aggregation, astrocyte degradation, glial injury etc. This specific mutation was identified in the late 1940’s with a hip pain and mild fever (56year old patient). It is important to remember that the severity of the disease depends on the age factor. It is subcategorized based on the age as infantile, juvenile, adult. Infantile …show more content…
These mutations are hard to be identified in the patient as they can reside by the non-coding regions of the gene. For example, three different patients with unique characteristics were analyzed for the study. Patient one has a non-coding mutation. Patient two has insertion and deletion type of mutation at the end of the coding region. Patient three has a single base deletion at the C-terminal resulting short frameshift. To identify the functional mutant type protein, both the wild type and mutant type protein were transfected into SW13 cells, that lack the cytoplasmic intermediate vectors. The wild type formed a complete filamentous network whereas the mutant GFAP produced uniquely different style of protein clumps. In addition, co-transfection was performed to check the dominance of mutant GFAP protein. These new findings provide an insight to having a closer look on frameshift mutations on GFAP, that could have missed by residing in the non-coding region of the GFAP gene. It also focuses on the inclusion of splice site regions in the sequencing analysis. That way these frameshift mutations could be identified in the clinical