Which type of collagen is affected in osteogenesis imperfecta?
A reduction in type I collagen causes bones to be brittle and to fracture easily. The mutations that cause osteogenesis imperfecta types II, III, and IV occur in either the COL1A1 or COL1A2 gene. These mutations typically alter the structure of type I collagen molecules, resulting in abnormal type I collagen.
How does osteogenesis imperfecta affect collagen?
Osteogenesis imperfecta is caused by a faulty gene that affects the body’s ability to produce collagen. The quantity of collagen produced is either lower or of a poorer quality. If one parent has osteogenesis imperfecta, a child has a 50% chance of having the condition.
What is osteogenesis imperfecta type1?
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood.
What is the mechanism of osteogenesis imperfecta?
Osteogenesis Imperfecta (OI) is a genetic disorder characterized by various clinical features including bone deformities, low bone mass, brittle bones, and connective tissue manifestations. The predominant cause of OI is due to mutations in the two genes that encode type I collagen.
Where is type 4 collagen found?
Context: Type IV collagen is a type of collagen found primarily in the skin within the basement membrane zone. The type IV collagen C4 domain at the C-terminus is not removed in post-translational processing, and the fibers are thus link head-to-head, rather than in a parallel fashion.
How long does someone with osteogenesis imperfecta live?
Life expectancy for males with OI was 9.5 years shorter than that for the general population (72.4 years vs 81.9 years), and for females, was 7.1 years shorter than that for the general population (77.4 years vs 84.5 years).
Is Osteogenesis Imperfecta OI painful?
Background: Pain is a common symptom of osteogenesis imperfecta (OI) among children and adolescents. However, little is currently known of the pain experiences of adults with OI.
What is the average lifespan of someone with osteogenesis imperfecta?
The median survival time in the OI cohort was 72.4 years for males (compared to 81.5 years in the reference population) and 77.4 for females (compared to 84.5 in the reference population).
What is the life expectancy of osteogenesis imperfecta?
What foods have type 4 collagen?
Food sources of collagen include the following:
- Egg whites.
- Citrus fruits.
- Red and yellow vegetables.
- White tea.
Which is the correct description of osteogenesis imperfecta?
Osteogenesis imperfecta is a disease caused by a genetic mutation that causes abnormal type 1 collagen cross-linking. Patients either have insufficient production of type 1 collagen or they produce an abnormal version of type 1 collagen. The lack of normal type 1 collagen leads to insufficient production of osteoid (the organic matrix of bone).
What kind of collagen is normal in Type I oI?
Generally, people with Type I OI have normal type 1 collagen but approximately half the typical amount. People with Type II, Type III, or Type IV OI (the moderate to severe forms) have low levels of abnormal type 1 collagen. OI affects people in several ways and may vary from person to person.
What causes the blue sclera in osteogenesis imperfecta?
The classic “blue sclera” of osteogenesis imperfecta (courtesy Wikipedia). Osteogenesis imperfecta is a disease caused by a genetic mutation that causes abnormal type 1 collagen cross-linking. Patients either have insufficient production of type 1 collagen or they produce an abnormal version of type 1 collagen.
Where can I get genetic testing for osteogenesis imperfecta?
GeneTests lists the names of laboratories that are performing genetic testing for different types of osteogenesis imperfecta. To view the contact information for the clinical laboratories conducting testing, click here and click on “Testing” next to the type of OI in which you are interested.