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Molecular basis of cystic fibrosis (CF)
15
Mateusz Janczak
biotechnology, V semester
Molecular basis of cystic fibrosis (CF)
Cystic fibrosis in Poland
Signs and simptoms
In Poland there are about 1200 people with cystic fibrosis, but this number shows only the amount of patients that are already diagnosed.
The median age of survival of people with CF in Poland is about 20 years. In western Europe people live twice as long due to better health care and common tests as newborn screening, sweat testing and genetic testing.
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Structure of CFTR
Clubbing fingers
Cystic fibrosis transmembrane conductance regulator (CFTR) is a protein that in humans is encoded by the CFTR gene.
CFTR is an ABC transporter-class ion channel that transports chloride and thiocyanate ions across epithelial cell membranes. Mutations of the CFTR gene affect functioning of the chloride ion channels in these cell membranes, leading to cystic fibrosis and congenital absence of the vas deferens.
Clinical phenotype of CF patients
Basics
Cause
Cystic fibrosis (CF), also known as mucoviscidosis, is an autosomal recessive genetic disorder that affects most critically the lungs, and also the pancreas, liver, and intestine. It is characterized by abnormal transport of chloride and sodium across an epithelium, leading to thick, viscous secretions.
Pattern of inheritance
CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). The most common mutation, deltaF508, is a deletion (delta signifying deletion) of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein. The CFTR gene, found at the q31.2 locus of chromosome 7