biochemistry

collagen presentation
GROUP MEMBERS:

NATASHA ALLADIN
DAVENDRA CARTER
JONELLE EUROPE
LATIFA HENRY
THERESA JAIKISHUN
TOSNAUSHA LOGAN
AZALIA LUKE
SHARICE RAZACK
TAMARA WILLIAMS

COLLAGEN VASCULAR DISEASES

Rheumatoid arthritis (RA) - the immune system attacks the thin membrane

(called the synovium) lining the joints, causing pain, stiffness, warmth and
swelling of the joints, and inflammation throughout the body.
Polymyositis and dermatomyositis - two related diseases in which there is

inflammation of the muscles (polymyositis) and skin (dermatomyositis).

Scleroderma - group of disorders that causes thick, tight skin, buildup of scar

tissue, and organ damage.

Systemic lupus erythematosus - (SLE or simply lupus) is a disease

characterized by inflammation of the joints, skin, and internal organs.

Marfan Syndrome affects collagen of the heart, eyes, bones, lungs and

spinal cord by carrying the gene fibrillin -1.

Alports Syndrome is a defect in collagen type 4 and an inherited form of

kidney inflammation, damaging tiny blood vessels.

GENETIC DISORDERS OF
COLLAGEN BIOSYNTHESIS

Ehlers-Danlos Syndrome (EDS)

Heterogeneous group of generalized connective tissue disorders

that result from inheritable defects in metabolism of fibrillar

collagen molecules.
The most clinically important mutations are in the gene for type

III collagen.
Potentially lethal vascular problems occur.
Patients also show defects in collagen type I fibril, which result

in stretchy skin and loose joints

OSTEOGENESIS IMPERFECTA (OI)

Also known as brittle bone syndrome, is heterogeneous group of

inherited disorders distinguished by bones that easily bend and

fracture.
Common features include: retarded wound healing and a rotated

and twisted spine leading to humped-back appearance.

There two types: Type I OI (Osteogenesis imperfecta tarda), Type

II OI (Osteogenesis imperfecta congenita)

Most patients with severe disease have mutations in the gene for

type I collagen.
The structurally abnormal chains prevent folding of the protein

into triple-helical conformation.

REFERENCES
Jones D, Hosalkar H, Jones S. The orthopaedic management of
osteogenesis imperfecta. Clin Orthop. 2002. 16:374-88.
Zeitlin L, Fassier F, Glorieux FH. Modern approach to children with
osteogenesis imperfecta. J Pediatr Orthop B. 2003 Mar. 12(2):77-87.
[Medline].
Forin V. [Paediatric osteogenesis imperfecta: medical and physical
treatment]. Arch Pediatr. 2008 Jun. 15(5):792-3. [Medline].
Esposito P, Plotkin H. Surgical treatment of osteogenesis imperfecta:
current concepts. Curr Opin Pediatr. 2008 Feb. 20(1):52-7. [Medline

http://onlinelibrary.wiley.com/doi/10.1002/bip.360210507/abstract
http://www.biochemj.org/bj/316/0001/3160001.pdf

].

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