Cystic Fibrosis Hereditary recessive trait disease

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Cystic Fibrosis Hereditary recessive trait disease Affects the respiratory, digestive and reproductive systems Most common in Caucasian population 1 in 2,500 births 1 in 31 Caucasians in America are carriers Average life span 30 years No cure Bupa.com

CFTR Protein Cystic fibrosis transmembrane conductance regulator Affects the CFTR gene: locus 7q31.2 in the q31.2 long arm of chromosome 7 CFTR protein 1480 amino acids long Traffic ATPase or ABC transporter Transports sugars, peptides, inorganic phosphate, chloride and metal cations across membrane Chloride channel protein found in cell lining of lungs, liver, pancreas, intestines, reproductive tract and skin

What it does Defect in the CFTR gene that codes sodium and chloride transporter located in the lining of lungs and other organs 500 different mutations most common found on delta F508 causing loss of chloride ion

Pathways Normal CFTR protein is synthesized Transported to the endoplasmic reticulum and Golgi apparatus in order for integration to take place Sodium and chloride ion are transported which creates a thin mucus layer in the lungs and other organs The mucus and cilia lining captures bacteria that cause infections http://www.hipusa.com/eTools/webmd/A-Z_Encyclopedia/CysticFibrosis.jpg

Stuff you don’t understand! www.merck.com

I don’t know if this is my part so I just copied and pasted this I can rewrite it if it is needed The thick mucus also obstructs the ducts of the pancreas, preventing digestive enzymes from reaching the intestines. So those with CF do not absorb nutrients from their food well, and they eliminate non-digested food through the bowel, resulting in very large stools. Because so little food is absorbed, those with CF have difficulty gaining and maintaining weight, despite a healthy appetite and diet. CF also affects the reproductive systems of both males and females. Although females with CF have normal fallopian tubes and ovaries, their thick cervical secretions may block sperm entry and prevent them from getting pregnant. Males with CF are almost always sterile because they produce relatively few or no sperm. Also, abnormally thick secretions may block the ducts that carry sperm, or the ducts may not develop properly.