A 12-year-old girl presents with advanced features of progeria (patient shown in the figure). This child has inherited mutations in the gene that encodes which of the following types of intracellular proteins?
1.Lamin
2.Helicase
3.Oxidase
4.Polymerase
5. Toisomerase
Solution
Hutchinson-Gilford progeria is a rare genetic disease characterized by early cataracts, hair loss, atrophy of the skin, osteoporosis, and atherosclerosis. This phenotype gives the impression of premature aging in children. Progeria is one of many diseases caused by mutations in the human lamin A gene (LMNA). Lamins are intermediate filament proteins that form a fibrous meshwork beneath the nuclear envelope. Defective lamin A is thought to make the nucleus unstable, leading to cell injury and death. Mutations in the other genes are not linked to Hutchinson-Gilford progeria
syndrome.