Collagenopathy, types II and XI

Collagenopathy, types II and XI

The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs. These disorders are caused by defects in type II or type XI collagen. Collagens are complex molecules that provide structure, strength, and elasticity to connective tissue. Type II and type XI collagen disorders are grouped together because both types of collagen are components of the cartilage found in joints and the spinal column, the inner ear, and the jelly-like substance that fills the eyeball (the vitreous). The type II and XI collagenopathies result in similar clinical features.

Types

Genetic changes are related to the following types of collagenopathy, types II and XI.

The system for classifying collagenopathies is changing as researchers learn more about the genetic causes of these disorders.The clinical features of the type II and XI collagenopathies vary among the disorders, but there is considerable overlap. Common signs and symptoms include problems with bone development that can result in short stature, enlarged joints, spinal curvature, and arthritis at a young age. For some people, bone changes can be seen only on X-ray images. Problems with vision and hearing, as well as a cleft palate with a small lower jaw, are common. Some individuals with these disorders have distinctive facial features such as protruding eyes and a flat nasal bridge.

Causes

Mutations in the COL11A1, COL11A2, and COL2A1 genes cause collagenopathy, types II and XI. These genes carry instructions for the protein strands that make up type II and type XI collagen. All collagen molecules are made of three protein strands (called alpha chains). The alpha chains may be identical or different, depending on the type of collagen. Type II collagen is made by combining three copies of the alpha chain made by the COL2A1 gene. Type XI collagen, on the other hand, is composed of three different alpha chains: the products of the COL2A1, COL11A1, and COL11A2 genes.

Mutations in these genes interfere with the proper assembly of type II and XI collagens or reduce the amount of these collagens. Defective or reduced numbers of collagen molecules affect the development of bones and other connective tissues, causing the signs and symptoms of the type II and XI collagenopathies.

This article incorporates public domain text from The U.S. National Library of Medicine


Wikimedia Foundation. 2010.

Поможем написать реферат

Look at other dictionaries:

  • Collagen — Tropocollagen triple helix Collagen /ˈkɒlədʒɨn/ is a group of naturally occurring proteins found in animals, especially in the flesh and connective tissues of mammals.[1] It is the main component of connectiv …   Wikipedia

  • Stickler syndrome — Infobox Disease Name = Stickler syndrome Caption = DiseasesDB = 29327 ICD10 = ICD10|Q|87|8|q|80 ICD9 = ICD9|756.0 ICDO = OMIM = 108300 OMIM mult = OMIM2|277610 OMIM2|184840 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Stickler syndrome …   Wikipedia

  • Kniest dysplasia — Classification and external resources ICD 10 Q77.8 OMIM 156550 DiseasesDB …   Wikipedia

  • Otospondylomegaepiphyseal dysplasia — Classification and external resources OMIM 215150 DiseasesDB 32024 Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive …   Wikipedia

  • 1-я хромосома человека — Идиограмма 1 й хромосомы человека 1 я хромосома человека  самая большая из 23 человеческих хромосом, одна из 22 аутосом человека. Хромосома содержит около 248 млн пар оснований …   Википедия

  • 6-я хромосома человека — Идиограмма 6 й хромосомы человека 6 я хромосома человека  одна из 23 человеческих хромосом. Хромосома содержит более 171 млн пар оснований[1], ч …   Википедия

  • Collagen disease — Classification and external resources MeSH D003095 Collagen disease is a term previously used to describe systemic autoimmune diseases (e.g., rheumatoid arthritis, systemic lupus erythematosus, and systemic sclerosis), but now is thought to be …   Wikipedia

  • Chromosome 6 (human) — This article is about a chromosome. For the novel of the same name, see Chromosome 6 (novel) . Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170… …   Wikipedia

  • Chromosome 1 (human) — Map of Chromosome 1 Chromosome 1 is the designation for the largest human chromosome. Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non sex chromosomes. Chromosome 1 spans about 247 million nucleotide …   Wikipedia

  • Spondyloepiphyseal dysplasia congenita — DiseaseDisorder infobox Name = PAGENAME ICD10 = ICD10|Q|77|7|q|65 ICD9 = ICD9|756.9 ICDO = Caption = OMIM = 183900 MedlinePlus = eMedicineSubj = orthoped eMedicineTopic = 630 DiseasesDB = 29410 Spondyloepiphyseal dysplasia congenita (abbreviated… …   Wikipedia

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”