Collagen Types and Linked Disorders

Collagen Types and Linked Disorders

By Dr Ananya Mandal, MD

There are 29 genetically distinct present in animal tissues. Collagen types I, II, III, V and XI self-assemble into D-periodic cross-striated fibrils. Here the D is approximately 67 nm and there is characteristic axial periodicity of collagen. These form the most abundant collagens in vertebrates.

Collagen types I - V • is found throughout the body except in cartilaginous tissues. It is found in skin, tendon, vascular, ligature, organs and is the main component of bone. It is also synthesized in response to injury and in the fibrous nodules in fibrous diseases. Over 90% of the collagen in the body is type I. • Type II collagen is the main component of cartilage. It is also found in developing cornea and vitreous humour. These are formed from two or more collagens or co-polymers rather than a single type of collagen. • Type III collagen is found in the walls of arteries and other hollow organs and usually occurs in the same fibril with type I collagen. • Type IV forms the bases of cell • and type XI collagen are minor components of tissue and occur as fibrils with type I and type II collagen respectively. Type V forms cell surfaces, hair and placenta.

Collagen linked diseases

Due to the diverse location of the collagen types they are associated with diseases. The collagen linked diseases commonly arise from genetic defects or nutritional deficiencies. These defects often cause problems in the biosynthesis of the collagen molecules, their assembly and posttranslational modification process that makes them their final end form of collagen.

There may be defects in collagen secretion and general production as well. In addition there is excess collagen formation and deposition in scleroderma.

Collagen-related diseases most commonly arise from genetic defects or nutritional deficiencies that affect the biosynthesis, assembly, postranslational modification, secretion, or other processes involved in normal collagen production.

Type Notes Gene(s) Disorders

This is the most abundant collagen of the human body. It is osteogenesis imperfecta, present in scar tissue, the end product when tissue heals by Ehlers-Danlos Syndrome, I repair. It is found in tendons, skin, artery walls, the COL1A1, COL1A2 Infantile cortical hyperostosis endomysium of myofibrils, fibrocartilage, and the organic part aka Caffey's disease of bones and teeth.

Hyaline cartilage, makes up 50% of all cartilage . II COL2A1 Collagenopathy Vitreous humour of the eye.

This is the collagen of granulation tissue, and is produced quickly by young fibroblasts before the tougher type I collagen III COL3A1 Ehlers-Danlos Syndrome is synthesized. Reticular fiber. Also found in artery walls, skin, intestines and the uterus

basal lamina; eye lens. Also serves as part of the filtration COL4A1, COL4A2, Alport syndrome, Goodpasture's IV system in capillaries and the glomeruli of nephron in the COL4A3, COL4A4, syndrome kidney. COL4A5, COL4A6

most interstitial tissue, assoc. with type I, associated with COL5A1, COL5A2, Ehlers-Danlos syndrome V placenta COL5A3 (Classical)

COL6A1, COL6A2, Ulrich myopathy and Bethlem VI most interstitial tissue, assoc. with type I COL6A3 myopathy

P Saved from URL: http://www.news-medical.net/health/Collagen-Types-and-Linked-Disorders.aspx 1/3 Collagen Types and Linked Disorders

epidermolysis bullosa VII forms anchoring fibrils in dermal epidermal junctions COL7A1 dystrophica

Posterior polymorphous corneal VIII some endothelial cells COL8A1, COL8A2 dystrophy 2

COL9A1, COL9A2, IX FACIT collagen, cartilage, assoc. with type II and XI fibrils - EDM2 and EDM3 COL9A3

X hypertrophic and mineralizing cartilage COL10A1 Schmid metaphyseal dysplasia

COL11A1, XI cartilage Collagenopathy COL11A2

FACIT collagen, interacts with type I containing fibrils, XII COL12A1 - and glycosaminoglycans

transmembrane collagen, interacts with integrin a1b1, XIII fibronectin and components of basement membranes like COL13A1 - nidogen and perlecan.

XIV FACIT collagen COL14A1 -

XV - COL15A1 -

XVI - COL16A1 -

Bullous pemphigoid and certain transmembrane collagen, also known as BP180, a 180 kDa XVII COL17A1 forms of junctional protein epidermolysis bullosa

XVIII source of COL18A1 -

XIX FACIT collagen COL19A1 -

XX - COL20A1 -

XXI FACIT collagen COL21A1 -

XXII - COL22A1 -

XXIII MACIT collagen - COL23A1 -

XXIV - COL24A1 -

XXV - COL25A1 -

XXVI - EMID2 -

XXVII - COL27A1 -

XXVIII - COL28A1 -

XXIX epidermal collagen COL29A1 Atopic dermatitis

In addition to the above mentioned disorders, excessive deposition of collagen occurs in scleroderma.

Reviewed by April Cashin-Garbutt, BA Hons (Cantab)

Sources 1. http://www.biochem.wisc.edu/faculty/raines/lab/pdfs/Shoulders2009a.pdf 2. http://courses.washington.edu/bioen327/Labs/Lit_MechPropsCollagen_Fratzl_1997.pdf

P Saved from URL: http://www.news-medical.net/health/Collagen-Types-and-Linked-Disorders.aspx 2/3 Collagen Types and Linked Disorders

3. http://onlinelibrary.wiley.com/doi/10.1002/bip.360210507/abstract 4. http://www.biochemj.org/bj/316/0001/3160001.pdf 5. https://ueaeprints.uea.ac.uk/1112/1/2003_Gelse_et_al_Collagens_structure_function_and______biosynthesis.pdf 6. http://www.karinherzog.co.uk/PDF/Articles/Collagen.pdf 7. http://www.reshapebook.com/ProteinReport.pdf 8. http://www-personal.umich.edu/~egatenby/collagen%20eyre%20chapter.pdf 9. http://fabad.org/fabad.org/pdf/volum32/issue3/139-144.pdf

Further Reading • Collagen - What is Collagen? • Collagen Molecular Structure • Collagen Fibrillar Structure • Collagen Synthesis • Collagen Uses • Collagen Medical Uses

P Saved from URL: http://www.news-medical.net/health/Collagen-Types-and-Linked-Disorders.aspx 3/3