137+master+figsA+To+post

137+master+figsA+To+post - Week 1 what genes do 2...

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1 Week 1 what genes do 2 assertions • All disease has a genetic origin • We could cure/eliminate most genetic disease in 2 generations. – Issues are ethical; economic What is a gene? Genes make proteins The information for protein assembly is stored in packets of DNA sequence [genes] DNA -> RNA -> Protein Proteins are: – Catalysts [enzymes] – Structural proteins – Regulatory proteins • Hormones • Signaling molecules ?Exceptions to genes make proteins =?? Structural gene = keratin epidermolysis bulosa Some keratin OK Some not! Conclusion? Structural gene = keratin epidermolysis bulosa Catalytic genes - HGPRT Lesh Nyhan
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2 Harlequin Ichthyosis defect in lipid transport The skin forms large diamond- shaped plates separated by deep cracks (fissures). These skin abnormalities a f ect the shape of the eyelids, nose, mouth, and ears, and restrict movement of the arms and legs. Restricted movement of the chest can lead to breathing di F culties and respiratory failure The ABCA12 gene makes a protein that appears to play a major role in the transport of lipids (fats) in the outermost layer of skin (the epidermis). Lucy Betts, at eighteen years old, is the oldest surviving harlequin ichthyosis su f erer in Britain (7 in UK). Her survival is down to a life-saving ritual of scrubbing, bathing and creaming to keep the skin growth under control. http://ghr.nlm.nih.gov/condition =harlequinichthyosis Harlequin Harlequin Ichthyosis Ichthyosis defect in lipid transport Lucy Betts, at eighteen years old, is the oldest surviving harlequin ichthyosis su f erer in Britain (7 in UK). Her survival is down to a life-saving ritual of scrubbing, bathing and creaming to keep the skin growth under control. Overnight, Lucy and Hannah's bodies grow as much skin as a normal body would grow in 14 days. Every morning and every night they have to bathe for up to 2 hours. The top layers of excess skin have to be rubbed o f and softened with skin cream to prevent it cracking and causing infection. This can be a very painful process which the girls have undergone since birth. Between them, Hannah and Lucy use one 12kg tub of skin cream every 5 days.
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This note was uploaded on 10/27/2009 for the course BIO SCI 05580 taught by Professor Marsh during the Fall '09 term at UC Irvine.

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137+master+figsA+To+post - Week 1 what genes do 2...

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