Fibrous Proteins

Question 1

Menkes Disease

Answer 1

Cu difficiency; Nervous system deterioration; x-linked recessive; also blue sclera but has nothing to do with collagen formation

Question 2

Ehlers-Danlos Syndrome

Answer 2

COL5A1 and COL5A2 gene defects encoding type V collagen; deficiency of collagen processing enzymes ex. lysyl hydroxylase, procollagen peptidase; Hyperextensible skin, joint hypermobility, delayed wound healing, hypotonia

Question 3

Osteogeneneis Imperfecta

Answer 3

COL1A1 and COL1A2 mutations; Type I: COL1A1; Type II COL1A1 and COL1A2; Bone fractures. blue sclera, hearing loss, retarded wound healing, spine twisting (kyphotic), pulmonary hypoplasia; gly replaced by bulky chain aa; prevention of triple helix formation

Question 4

Marfan’s Syndrome

Answer 4

Fibrillin; Fibrillin-1 and fibrillin-2 encoded by FBN1 & FBN2; essential for biogenesis of elastin; Tall stature, ectopic lentis, mitral valve prolapse, aortic dilatation