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This is a very basic brief overview of FC with just some of the key points.

If anything here comes as a shock its probably worth looking over again! Introduction to FC Cystic Fibrosis Defective gene present in 1/25 caucasian people Most common mutation is F508 (Phenylalanine deleted) Intro to Histology Fixation is killing and preserving the tissue in a state most like that of the living tissue Embedding is putting the specimen in a solid medium to facilitate thin sectioning. haematoxylin and eosin stain (nuclei blue cytoplasm pink) is the most common stain Immunocytochemistry Label antibodies Antibodies bind to specific proteins During imaging the proteins, now bound by radioactive antibodies, allow it to show up on the image Epithelial Histology

microvilli cilia Learn the junctions! Desmosomes, Hemidesmosomes, Occluding junctions and Communication junctions

From Gene mutation to Mucoviscidosis 1 DNA is made 5 to 3 thus it is read 3 to 5 Cystic Fibrosis problems stem from the faulty CFTR protein that in CF has impaired Cl- secretion F508 is a class II or III defect The complex of DNA and protein is called chromatin (the chromosome and associated proteins)

During DNA replication one of the strands is in the wrong way. To compensate it is made in shorter fragments that are then joined together by DNA ligase (Okazaki fragments) The strand that is in the wrong way TO BE READ is 5 to 3

Respiratory Tract Histology Pharynx separates upper and lower tract Respiratory endothelium changes from pseudostratified ciliated in the URT to simple cuboidal in the LRT (non ciliated) Type 1 pneumocytes are less numerous than type 2 but take up more space, they form the thin barrier for gaseous diffusion Type 2 pneumocytes and Clara cells synthesise components of surfactant Gland Histology Exocrine gland products secreted into duct, therefore endocrine are ductless

Learn the secretory mechanisms

From Gene mutation to Mucoviscidosis 2 Small and Large ribosomal subunit only join together during translation Polyribosomes (lots of ribosomes in a row) allow one piece of mRNA to be fed through multiple ribosomes in sequence so lots of proteins can be synthesised from 1 piece of mRNA Defective proteins are bound to by Ubiquitin which marks them for destruction by proteases From Gene mutation to Mucoviscidosis 3 The Na+/K+ ATPase pump pumps out 3Na+ for every 2K+ that enter Passive carrier mediated transporters can be normal, symporters or antiporters Intro to embryology Cancer is a reversion to embryonic behaviour Gastrulation at 14 days after fertilisation is the moment of individualisation Neurulation comes after gastrulation

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