Wolff-Parkinson-White Case Study: Hereditary Diseases

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Hereditary diseases are genetic disorders that occur when mutated genes carrying certain mutations are transferred from parents onto an offspring. Genes are the factors that codes for proteins and deficient form of gene cause due to mutation in genes give rise to deficient form of protein.

Wolff-Parkinson-White (WPW) syndrome is a hereditary disease. WPW syndrome causes chronic heart disease which is associated with ventricular pre-excitation and a thicker ventricle muscle. Patients with the disease have a high rate of more than 100 heart beats per minute, while a healthy person having a normal heart has 72 heart beats per minute. This increased heart beats and other factors associated with the disease result in severe cardiac disease and
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Researchers diagnosed a mother and a son who were affected by WPW. They found out that the disease was caused by the H530R point mutation—a type of mutation occurs when one of the bases in the whole gene gets exchange with another base—in the PRKAG2 gene. To be assured, the researchers further analyzed 10 females and 9 males of the family and found out that the grandfather had one copy of the mutated PRKAG2 gene. These results exhibit that the disease is dominant …show more content…
The sgRNA (single-guided RNA) was put into a self-complementary AAV9 vector with a prolonged expression. The sgRNA was designed manually for editing the gene particularly at H530R mutation. To find out the accurate sgRNA researchers developed four different sgRNAs and injected them to WT mice and +/H530R mice and found out that sgRNA-m3 was accurate in editing the genome as the indel frequencies of sgRNA-m3 was least among others in WT mice.
To ensure desired result and specificity of AAV9 mediated gene delivery was evaluated through various routes injection. Researchers found out intraventricular and tail-vein injection to be the most efficient way to deliver AAV9-Cas9/sgRNA-m3 complex. Researchers then injected AAV9-Cas9/sgRNA-m3 complex intraventricularly into the postnatal mice at day 4 and at day

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