BIOL 3090 Lecture : BIOL 3090 Lecture 25
Document Summary
Progeria is a lethal genetic disease most notably characterized by premature. Progeria is usually detected in children by 24 months. The lethal disease is mainly caused by a point mutation of c to t at the 1824 position in the human nuclear lamina a gene. This mutation not only causes the aged physical appearance of children with the disease but also causes a vast array of other physical aliments that ultimately lead to the death of the children around the age of 13. The leading cause of death for most children with progeria is heart related complications. On a cellular level, there is a major difference between the cells of people with progeria and normal people. Children with progeria have oddly nuclei in their cells. Lamin a proteins play a role in properly shaping the nuclei of cells. These domains may be due to involvement in organizing heterochromatin. The lamin proteins are also involved in the regulation of gene expression.