This disease is most commonly caused by a silent mutation at Gly-608 that results in utilization of a cryptic splice site, causing the protein mutated in this disease to be permanently farnesylated. The coxa valga malformation in this disease predisposes sufferers to hip displacement and, while affected individuals appear largely normal at birth, they may present with midfacial cyanosis. Defects in base excision repair and nucleotide excision repair, such as Werner syndrome or Cockayne syndrome, can cause the segmental type of this disease, but the conventional type of this disease is also known as Hutchinson-Gilman syndrome and results from the formation of a namesake truncated splicing mutant of lamin A. This lead
This disease is most commonly caused by a silent mutation at Gly-608 that results in utilization of a cryptic splice site, causing the protein mutated in this disease to be permanently farnesylated. The coxa valga malformation in this disease predisposes sufferers to hip displacement and, while affected individuals appear largely normal at birth, they may present with midfacial cyanosis. Defects in base excision repair and nucleotide excision repair, such as Werner syndrome or Cockayne syndrome, can cause the segmental type of this disease, but the conventional type of this disease is also known as Hutchinson-Gilman syndrome and results from the formation of a namesake truncated splicing mutant of lamin A. This leads to alopecia, loss of subcutaneous fat, and severe atherosclerosis and predisposition to strokes. For 10 points, name this disease that causes accelerated aging.
This disease is most commonly caused by a silent mutation at Gly-608 that results in utilization of a cryptic splice site, causing the protein mutated in this disease to be permanently farnesylated.
progeria