HMB441 Lecture 8 alternate.docx

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Human Biology
Maria Papaconstantinou

NOV 21, 2012 Autoimmune diseases - Look at twins, MZ twins are more likely to both have the disease, - And look at families Rheumatoid Arthritis - Immune system very specifically decided to target the joint region of the body, swelling, pain and bone distraction, can affect every joint of the body - Not uncommon - Treatment is poorly developed - 60% due to genetics - Example, this family have members that have different autoimmune diseases, the genes that are predisposed to these disease are actually shared between these different diseases Autoimmune disease genes - The severity of the patients can be widely ranged, we need markers to allow us to specifically treatment each patients based on their symptoms - Primary treatment are often not efficient because some may respond and others may not. - Genetic test allow us to know who will respond and who will not. Single Gene Disease - A mistake in the DNA code makes the difference between health and disease Disease gene discovery is very challenging - Strategy is Positional Cloning: design a series of markers that allow you to pinpoint which chromosome and the location of the gene on the chromosome, you can see that the marker can be inherited with the disease gene, because they are very close to the disease gene, isolate the region of interest, find the genes in the region, and sequence each one and compare people with and without the disease Complex genetic disease - For example, A gene that codes for the protein that is needed for signaling and communication between cells by binding of the receptors, and make into the nucleus to affect the expression of genes in the nucleus, - Ex. Antigen of a bacteria for example can bind to the receptor on the T cell and it is activated, and some factors activates and some inhibit the genes Linkage vs. Association - Hard to find families that have diseases that are late onset - Limited resolution, linkage disequilibrium will exist Genomics - Markers have to be very close to each other, need thousand markers, Rheumatoid arthritis genes LYP -autoimmune disease will distract the interaction between LYP protein and CSK, so the T cell will be hyperactive - the gene is also studied the mouse, insertion of the mutation into the gene and breed mouse that carry the mutated gene which will ha e both copies of the mutated and normal gene - results show mutated animals had higher numbers of T cells, and they are dividing faster - and found that B cell and dendritic cells were also hyperactivated, response to stimuli were also higher - the expression level of the mutated gene is ok, but very different level when look at the proteins in control and mutated mice, and the mutated protein is degrading faster, its stability is distracted. - these were also observed in the humans, ex. Mutated gene have cells that are hyperproliferative - the disease is multigenic - more inflammation in the mutated mice cells , a trigger is needed to get the disease Integrating new genomics knowledge into healthcare, ta
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