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What is the Caffey Disease Mutation?

Published in Genetic Disorder 1 min read

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:

  • Key Role of Type I Collagen: Type I collagen is essential for the structural integrity of tissues such as:

    • Bones
    • Cartilage
    • Tendons
    • Skin
  • 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.