Cystic Fibrosis and the CFTR Gene by RONNIE MCMILLAN https://padlet.com/rem006/cmxwynd6tg554gmp Reichel Zhang and Ronnie McMillan en-us 2022-10-27 15:19:52 UTC 2022-12-10 21:57:19 UTC hello@padlet.com CFTR Gene rem006 https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359261954 Gives instruction on how to make a protein called CF transmembrane conductance regulator (CFTR) [1].]]> 2022-10-27 15:23:00 UTC https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359261954 Chromosomal Location of Gene rem006 https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359265930 7q13.2-q13.4 on Chromosome 7 [5]. ]]> 2022-10-27 15:25:18 UTC https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359265930 Normal Function of the Gene rem006 https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359276361 The gene acts like a channel that produces mucus, saliva, sweat and digestive enzymes across the membrane of different cells [6].

The channel transports chloride ions in and out of the tissues [6]. The chloride ions are particles that are negatively charged which helps the body produce thin and free flowing mucus by controlling the movement of water in tissues [6].

The CFTR protein also helps regulate other channels. Another example is that it helps transport sodium ions which are positively charged particles [6].


]]> 2022-10-27 15:31:45 UTC https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359276361 Signs and Symptoms of the Disease State rem006 https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359281940 Early Symptoms include having a blocked intestine at birth, salty sweat or skin,breathing problems, low energy levels, and a cough[4]. As symptoms worsen, they may include wheezing and a cough that produces mucus with blood, trouble exercising, and rectal prolapse[4]. Later symptoms may include infertility, growths in the nose/sinuses, and clubbing of the fingers[4]. ]]> 2022-10-27 15:35:01 UTC https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359281940 Mutations in the Gene rem006 https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359309936 The most common mutation that causes cystic fibrosis is the deletion of 3 nucleotides [3]. This deletion causes the reading frame to be disrupted because the 3 nucleotide deletion is spread out between two different codons: the 507 codon ATC that codes for the amino acid Isoleucine and the ΔF508 codon that codes for the amino acid phenylalanine [3]. 

There are two ways that this mutation can happen on the complementary DNA strand. The first way is the last two nucleotides (TC) of the 507 isoleucine codon (ATC) and the first nucleotide (T) of ΔF508 codon (TTT) [3]. The second way is the last nucleotide (C) of the 507 isoleucine codon (ATC) and the first nucleotides (TT) of the ΔF508 codon (TTT) [3].

In both instances the mutation causes the 507 codon to have a silent codon change from ATC to ATT. It also causes the deletion of the amino acid phenylalanine that is coded by the “normal” 508 codon [3].

This phenylalanine causes channel processing defects and gating problems because it causes the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein to be misfiled and sent to the endoplasmic reticulum to get degraded due to endoplasmic reticulum-associated degradation [3].]]> 2022-10-27 15:51:28 UTC https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359309936 Normal CFTR Gene Sequencing rem006 https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359322719 Normal Template DNA Sequence [2]:
5’- AAC TGG ATG ATC TTT GGT GCC CTT AAG -3’

Complementary DNA Sequence:
3’- TTG ACC TAC TAG AAA CCA CGG GAA TTC-5’

mRNA Sequence:
5’- AAC UGG AUG AUC UUU GGU GCC CUU AAG -3’

Amino Acid Sequence:
NH2- Glu-Phe-Pro-Trp-Phe-Leu-Val-Gly-Glu-COOH

OR

5’- Glutamic Acid-Phenylalanine-Proline-Tryptophan-Phenylalanine-Leucine-Valine-Glycine-Glutamine- 3’

]]> 2022-10-27 15:58:56 UTC https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359322719 Mutated CFTR Gene Sequencing rem006 https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359331851 Complementary DNA Sequence:
3’- TTG ACC TAC TAA CCA CGG GAA TTC -5’

mRNA Sequence:
5’- AAC UGG AUG AUU GGU GCC CUU AAG -3’

Amino Acid Sequence:
NH2- Glu-Phe-Pro-Trp-Leu-Val-Gly-Glu -COOH

OR

5’- Glutamic Acid-Phenylalanine-Proline-Tryptophan-Leucine-Valine-Glycine-Glutamine- 3’]]> 2022-10-27 16:04:43 UTC https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359331851 Changes in the Protein and its Function rem006 https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359343119 The deletion of phenylalanine will create a protein deficiency which creates less energy fuel [6]. Phenylalanine is also found buried within proteins and serves a role in protein folding[6]. The deletion of this disrupts the folding and therefore the function[6].]]> 2022-10-27 16:12:06 UTC https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2359343119 Bibliography rmz0011 https://padlet.com/rem006/cmxwynd6tg554gmp/wish/2360053055 [1] Medline Plus. 2020 Aug 18. CFTR gene: MedlinePlus Genetics. medlineplusgov. https://medlineplus.gov/genetics/gene/cftr/#conditions.
[2] 2015. Ebiacuk. [accessed 2022 Oct 27]. https://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_663.xml.
[3] Lazrak A, Fu L, Bali V, Bartoszewski R, Rab A, Havasi V, Keiles S, Kappes J, Kumar R, Lefkowitz E, et al. 2013. The silent codon change I507-ATC->ATT contributes to the severity of the ΔF508 CFTR channel dysfunction. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 27(11):4630–45. doi:10.1096/fj.13-227330. https://www.ncbi.nlm.nih.gov/pubmed/23907436/.
[4] Symptoms. stanfordhealthcareorg. https://stanfordhealthcare.org/medical-conditions/chest-lungs-and-airways/adult-cystic-fibrosis/symptoms.html.
[5] Entry - %603855 - CYSTIC FIBROSIS, MODIFIER OF, 1; CFM1 - OMIM. omimorg. [accessed 2022 Oct 27]. https://omim.org/entry/603855?search=cystic%20fibrosis&highlight=cystic%20fibrosi. 
[6] Phenylalanine - an overview | ScienceDirect Topics. 2012. Sciencedirectcom. https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/phenylalanine.







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