A mutation in the COL1A1 gene is the cause of Caffey disease.
Understanding the Mutation
The core issue in Caffey disease stems from a problem with the COL1A1 gene. This gene provides the instructions for building a component of type I collagen, a vital protein that gives strength to various tissues in the body.
How Type I Collagen is Impacted:
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Key Role of Type I Collagen: Type I collagen is essential for the structural integrity of tissues such as:
- Bones
- Cartilage
- Tendons
- Skin
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Mutation Impact: When the COL1A1 gene is mutated, the production of type I collagen is altered. This alteration can affect the collagen's ability to function correctly, leading to problems in the tissues that rely on it.
Summary
Aspect | Details |
---|---|
Gene Mutation | Mutation in the COL1A1 gene |
Affected Protein | Type I Collagen |
Function of Collagen | Provides strength to bones, cartilage, tendons, and skin |
Consequence | Malfunction in these tissues resulting in Caffey Disease |
The mutation in the COL1A1 gene disrupts the production of normal type I collagen, resulting in the characteristics of Caffey disease.