Collagen Diseases

Objective: gain a better understanding of the structure and function of collagen by studying diseases that result from defective collagen.

What is the most abundant molecule in your body?
Everyone will benefit from reading this brief introduction to Collagen.

Assignment:  Choose a disease below, read the associated journal article and be prepared to present the disease to the class.  Please email Dr. Stone with your choice of topic.

• For your presentation, include the following:
• A brief description of the disease and its symptoms
• A description of the type of collagen that is defective.  Discuss how this type of collagen is normally synthesized and its normal function.
• Relate the defect in the collagen to the disease and its symptoms. 

You may want to search for other sources of information, but you should use as much information as possible from the sources that are given.  You will not be able to access some of these from home unless you first login in to your library account.

Bruck Syndrom: Defective collagen crosslinking in bone, but not in ligament or
cartilage, in Bruck syndrome: Indications for a bone-specific
telopeptide lysyl hydroxylase on chromosome 17ruck  This will be presented by Tryptophan.

Cancer: A quantitative method for measuring the antitumor potency of recombinant human endostatin in vivo  This will be presented by the A-Team.

Ehlers-Danlos Syndrom Type IV: Type III collagen is crucial for collagen I fibrillogenesis and for normal cardiovascular development.  This will be presented by the Catalysts.

Ehlers-Danlos Syndrom Type VII:   A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain  will be presented by TNT.

Brittle Bone Disease: Nuclear magnetic resonance shows asymmetric loss of triple helix in peptides modeling a collagen mutation in brittle bone disease.  This will be presented by the Yellow group.

Alport's Syndrom:  Type IV Collagen of the Glomerular Basement Membrane This will be presented by the Atomic Bombs

Sciatica: Magnetic Resonance Imaging Findings in Relation to the COL9A2 Tryptophan Allele Among Patients With Sciatica will be presented by the Smurfs.