Dictionary > Osteogenesis imperfecta

Osteogenesis imperfecta

Definition
noun
A condition characterized by bones being brittle and breaking easily as caused by a set of genetic disorders resulting in an altered type I collagen and thereby a weak connective tissue essential for a normally strong bone
Supplement
Osteogenesis imperfecta is a condition due to a set of genetic disorders affecting the type I collagen structure necessary for normally strong and healthy bones. Because of the altered type I collagen structure, the connective tissues are affected resulting in the bones breaking easily. Thus, this condition is also called brittle bone disease. Apart from brittle bones, other symptoms include loose joints, hearing loss, short height, teeth problems, and a blue tinge on the sclera.
Some of the potential genetic mutations that would result in this condition are those involving COL1A1, COL1A2, CRTAP, and P3H1 genes. Most of the cases of osteogenesis imperfecta though are associated with a mutation in the COL1A1 gene. The result is an altered structure of type I collagen molecules, and subsequently, a weak connective tissue, particularly the bones.1
There are different types (at least nine) of osteogenesis imperfecta. Type I is the least severe (i.e. mild type). The most severe type reported is type II. It is severe and usually lethal in the perinatal period.1
Abbreviation/Acronym:

  • OI

Synonym(s):

  • brittle bone disease
  • See also:

    Reference(s):

    1 Osteogenesis imperfecta. (2018). Genetics Home References (web). Retrieved from https://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta.


    You will also like...

    Endemic Flora of New Zealand
    New Zealand’s Unique Flora

    If New Zealand has lots of unique animals, it's also got a whole lot of unique plants. Find out more about some of them,..

    Plant biology
    Plant Biology

    Plantlife can be studied at a variety of levels, from the molecular, genetic and biochemical level through organelles, c..

    Regulation of Biological Systems
    Regulation of Biological Systems

    Regulation of Biological Systems tutorials are focused on the modulation of biological systems from cell to population l..

    Biosecurity and Biocontrol
    Biosecurity and Biocontrol

    This lesson explores the impact of biosecurity threats, and why they need to be identified and managed. Examples to incl..

    Plant Auxins
    Plant Auxins – Phototropism & Geotropism

    Plants produce hormones to regulate their growth. Auxins, for instance, influence plant growth. Know the role of auxin i..

    Bryophytes
    Bryophytes

    Bryophytes are a plant group characterized by being nonvascular. They include the mosses, the liverworts, and the hornwo..