Cystic Fibrosis | Molecular Mechanism & Genetics

Cystic Fibrosis | Molecular Mechanism & Genetics

Oh in this video we'll be discussing about cystic fibrosis the cystic fibrosis is an autosomal recessive disorder where affected gene is CFTR there's present on chromosome number seven first off all we will see what's the function of CFTR gene we see the CRP our gene is present on DNA transcribed into mRNA where transcription process and this all happens within that nucleus after that the Ameren is transported out of the nucleus and gets attached to their rough endoplasmic reticulum here on rough endoplasmic reticulum the ribosomes taken the mRNA molecule and initiate the translation process and through this translation process we finally get the CFTR protein so now we have the CFTR protein through this gene expression this CFTR protein is a channel protein chloride channel protein on plasma membrane of epithelial cells now where the CFTR protein that is present at our ER so from the site of synthesis that's from our ER it's transported to the plasma membrane of the cell but it will act as a channel protein and these CFTR protein channels are mostly present on epithelial cells where we see the epithelial cell the CFTR chloride channel protein is present in plasma membrane and inside of the cell we have chloride ions and water present and to the outside of the cell we see we have mucus on its surface a thick mucus but it's this CFTR protein which transports the chloride ions out of the cells and also draws water out of the cell through the process of osmosis and with this transport the mucus there's present on the surface of epithelial cell is thin it out it maintains the viscosity of mucus but things change here when there is a delta FP weight mutation in CFTR gene at that time the CFTR protein is absent in plasma membrane the Delta fi8 mutation is the deletion of Pinel alanine amino acid at thyroid pushin on polypeptide chain the F is the symbol for Pinnell Elleni so when there is delta fi with mutation in CRP our gene the gene is transcribed well into the mRNA we also get the CFG our protein from translation everything is going well till now but only thing that legs here is that CFG our protein is not able to get transported to the final destination that's to the plasma membrane do some polling errors so when there is absence of this transport channel in epithelial cells there will not be any transport of chloride ions and water will not be drawn out of the cell with which the secretion with which the mucus which are usually thin in a state become thick so what happens when the mucus becomes thick we have like lung disease results from clogging of the Airways due to the mucus buildup which results in inflammation and there are several other conditions related to cystic fibrosis now let's see the genetics of cystic fibrosis this being a autosomal recessive disorder will need to have 2 mutated copies of same gene or allele in an individual in order to express itself let's say capital a denotes the normalcy of TR allele while as the a star denotes the mutated CFTR allele then within the individual the possible conditions may arise as a normal individual when both the copies are normal there may be a and a star individual it's when one copy is normal the other copy is mutated this will give rise to normal individual but this will be a carrier one and finally we have a star a star individual it's when both the copies are mutated at that time we have affected individual that has cystic fibrosis this condition only arises when both the parents donates mutated allele that's one from father one from mother so this is all about cystic fibrosis and it is genetics I hope you liked the video if you liked it give it a thumbs up and make sure subscribes Channel thanks

12 thoughts on “Cystic Fibrosis | Molecular Mechanism & Genetics”

  1. great video just want to say that you left out that sodium ions follow the chloride and form sodium chloride (salt) within the mucus lowering the water potential drawing water in and thinning it
    but again great video

  2. I was searching for your explanation over this concept sir..
    Got it!!
    And we can also think of the anamoly in case of pancreatic endocrine secretion getting thickened due to the effect right sir..

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