Question

A baby who appeared healthy at birth developed a wrinkling of the skin by 3 months of age. She gained weight slowly and only weighed 16 pounds at age 2. Her head appeared abnormal with a prominent frontal region, low-set ears, a shallow recessed jaw, and a pinched nose. She began losing all body hair and was completely bald by age 3. Although she continued to grow slowly, her mental state and activity levels were normal. She entered kindergarten at age 5 wearing a wig and with notable wrinkles in her face. By age 7, she had developed arthritis in her knees and hands. She had limited movement and pain in most joints. At 10 years of age, she died of congestive heart failure. a. What cellular structure is defective, missing, or malfunctioning? b. What is the name of this disease?

Answer 1

a. In this disease, there is mutation in LMNA gene which results in production of abnormal version of protein lamin A. It makes nuclear envelope unstable and progressively damages nucleus . It causes the cell to die prematurely resulting in premature ageing.
b. From description, disease seems to be hutchinson gilford progeria syndrome in which premature aging occurs.