Cell exercise

The following diseases/deficiencies affect parts of the cell. Choose one of the following diseases/deficiencies from the list below and investigate as much as you can about the affect each of these has on the cell. Although you will find a great deal of information on the clinical aspects of many of these deficiencies, I would like you to specifically focus on information that also describes the affect on the cell, either its structure and/or its function. The exercise is to 1) briefly describe the basic part of the cell both structure and function, 2) briefly describe the disease or deficiency, and 3) describe how the disease or deficiency changes the normal structure or function of this cell part.  In addition you should identify two or three web sites that you used to address the above, these should be referenced. You may also include any other text sources if you used them. Type your findings on to one or two pages that you will turn in on Monday, July 16th.  We will duplicate everyone’s findings and create a packet of resources that you can later use when you teach about the cell. 

Disease	Cell part affected	
Osteogenesis imperfecta	Extracellular matrix	
Ehler-Danlos	Extracellular matrix
	
Cystic Fibrous	Ion channels in membrane structure	
Muscular Dystrophy	Dystrophin defect in cytoskeleton	
Caspase activity in programmed cell death (apoptosis)	Endoplasmic reticulum, accumulation of unprocessed proteins
	
Heat shock proteins	Nuclear regulatory proteins
	
Gout	Problem in the Endoplasmic reticulum
	
Diabetes	Defect with insulin receptors
	
Cholchicine	Drug that affects cytoskeleton, nuclear events	
Tay Sachs	Lysosome defect	
Leber’s hereditary optic neuropathy	Mitochondrial gene defect in electron transport system
	
Niacin deficiency	Mitochondria problems
	
Skunk cabbage	Mitochondria proton gradient uncoupling	
Alzheimer’s disease	Beta amyloid protein abnormal protein folding in cell membrane	
Deafness	As it relates to cilia defects in hair cells (cochlea)	
Snake venom	Inhibits receptors, prevents vesicle release	
Snake venom	Disrupts phospholipid membranes through lipase activity	
Malathion	Muscle paralysis	
Magnesium deficiency in plants	Chloroplast	
Catalase mutants or deficiency	Superoxide radical damage in peroxisomes	
Nicotine	Inhibits cilia beating