Study Set Content:
Treatment:
vitamin C supplementation, diet
• Brittle bone disease
Osteogenesis imperfecta
Autosomal dominant
Osteogenesis imperfecta
Osteogenesis imperfecta Mutations in
COL1A1 or COL1A2 genes
Affect procollagen formation
Osteogenesis imperfecta (
Base substitution w/c alters collagen structure
Osteogenesis imperfecta (OI)
Osteogenesis imperfecta (OI) Epidemiology:
1 in 15,000 people
Osteogenesis imperfecta Diagnosis:
DNA or collagen testing
Osteogenesis imperfecta cure
• No cure; preventive measures
Ehlers-Danlos Syndrome
EDS
Ehlers-Danlos Syndrome epidemiology
1 in 5000 individuals
Ehlers-Danlos Syndrome (EDS) • Inheritance:
autosomal dominant
Ehlers-Danlos Syndrome (EDS)• mutations are in the
COL1A1, COL1A2, COL3A1, COL5A1
Ehlers-Danlos Syndrome (EDS) cure
no cure; supportive treatment
Glycine pka1 pka2
2.34- 9.60
Alanine
2.34- 9.69
Valine
2.32- 9.62
Leucine
2.36-9.60
Isoleucine
2.36-9.60
Methionine
2.28-9.21
