A paper published recently in Cell Reports by researchers from Saint Louis University (SLU) throws light on why cells grow old swiftly in children afflicted with fatal, rare disease. The researchers revealed data which indicate cellular replication stress alongside a mistaken response to immune which leads to the condition. The team succeeded in stalling these processes in the laboratory by using vitamin D.
Susana Gonzalo who spearheaded the research at SLU studied both animal and human cells associated with the rare form of the disease, known by the name of Hutchinson-Gilford Progeria Syndrome (HGPS).
HGPS Results from Sudden Gene Mutation
HGPS results from the sudden mutation of a single gene which causes children to become old swiftly. They soon develop the typical illnesses and changes associated with old age such as wrinkled skin hair loss and greying, bone loss, and joint abnormalities. The condition also results in atherosclerosis in which fatty deposits block arteries which eventually cause death on account of myocardial infarction or stroke in their teenaged children.
By leveraging genetic mapping, researchers have now discovered that HGPS results from mutation in the LMNA gene, which encodes a protein called lamin A. Lamin A acts like a scaffold which keeps the nucleas of the cell in an organized shape. Progerin is the name of the mutated, shortened type of this protein and it makes the cell and its nucleus to become unstable. This also causes the cells to see premature aging.