00:00 / 00:00
Evolution and natural selection
Independent assortment of genes and linkage
Mendelian genetics and punnett squares
Alagille syndrome (NORD)
Familial adenomatous polyposis
Multiple endocrine neoplasia
Polycystic kidney disease
Treacher Collins syndrome
von Hippel-Lindau disease
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Niemann-Pick disease type C
Niemann-Pick disease types A and B (NORD)
Primary ciliary dyskinesia
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Cri du chat syndrome
Fragile X syndrome
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Ornithine transcarbamylase deficiency
Autosomal trisomies: Pathology review
Miscellaneous genetic disorders: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
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Current TV presents 'Dying Young'
Living with Cystic Fibrosis - Lauren's Story
Cystic Fibrosis Diagnosis and Treatment
Cystic Fibrosis Mechanisms
Cystic Fibrosis Symptoms and Complications
cystic fibrosis p. 58
in cystic fibrosis p. 58
cystic fibrosis p. 176
Aspergillus fumigatus p. , 150
bronchiectasis p. 696
chromosome association p. 62
common organisms p. 176
meconium ileus in p. 393
N -acetylcysteine p. 707
pancreatic insufficiency p. 388
vitamin deficiencies and p. 63
for cystic fibrosis p. 58
cystic fibrosis p. 58, 176
You’re probably aware that cystic fibrosis, or CF, is a genetic disorder that affects the lungs, but that’s only part of the story.
In fact, the name “cystic fibrosis,” refers to the disease’s effects on the pancreas, where it can lead to cysts, which are fluid-filled sacs wrapped in a membrane and fibrosis—excess deposition of connective tissue that can replace or infiltrate normal tissue in an organ.
CF is an autosomal recessive disorder involving the CFTR gene, which stands for “cystic fibrosis transmembrane conductance regulator,” and this gene codes for the CFTR protein.
CF develops when there’s a mutation in the CFTR gene, but because it’s autosomal recessive, you need to inherit two mutated CFTR genes, one from mom and one from dad.
Now if mom and dad both have one copy of the mutated gene and one normal gene, they’re considered carriers and don’t have the disease.
Inheriting CF is more common in people of European descent.
The CFTR protein is a channel protein that pumps chloride ions into various secretions, those chloride ions help draw water into the secretions, which ends up thinning them out.
The most common mutation is the “∆F508” mutation.
Delta means a deletion, and the F (which can also be written as “Phe”) is short for phenylalanine, and the 508 is the five hundred and 8th amino acid in the CFTR protein.
So, the ∆F508 mutation is where the 508th amino acid out of 1480, phenylalanine, is deleted and missing.
This CFTR protein with the ∆F508 mutation gets misfolded and can’t migrate from the endoplasmic reticulum to the cell membrane, meaning there’s a lack of CFTR protein on the epithelial surface, and this means that it can’t pump chloride ions out, which means water doesn’t get drawn in, and the secretions are left overly thick.
In a newborn, thick secretions can affect the baby’s meconium, or first stool, or, which can get so thick and sticky that it might get stuck in the baby’s intestines and not come out, and this is called a meconium ileus and is a surgical emergency.
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