Syllabus
GS3: Awareness in the fields of IT, Space, Computers, Robotics, Nano-technology, Bio-technology, and issues relating to Intellectual Property Rights.
Context:
A nine-month-old boy born with a rare genetic disorder called CPS1 deficiency has become the first known patient to receive a customised gene-editing treatment.
More on the News
- The treatment, described in a May 15 report in the New England Journal of Medicine, was developed by Scientists from the University of Pennsylvania and the Children’s Hospital of Philadelphia.
- They used “base editing,” an advanced form of CRISPR, to create a personalized treatment.
About CPS-1 deficiency
- Carbamoyl Phosphate Synthetase 1 Deficiency (CPSID) is a rare inherited disorder where the body lacks or has very low levels of an important enzyme called CPS1.
- CPS1 is one of five enzymes needed for the urea cycle, the process that removes extra nitrogen from the body.
- When CPS1 is missing or not working properly, nitrogen builds up in the blood as ammonia, a condition known as hyperammonemia.
- Ammonia is toxic, especially to the brain.
- In affected infants or children, Symptoms may include: Vomiting, Refusal to eat, Extreme sleepiness (lethargy) and Coma, in severe cases
- Cause and Inheritance: CPSID is caused by mutations in a gene that produces the CPS1 enzyme.
- It is inherited in an autosomal recessive pattern, meaning a child must inherit the faulty gene from both parents to be affected.
- CPS-1 deficiency has a 50% mortality rate in early infancy.
What is Base-Editing?
- Base editing is an advanced, more precise version of CRISPR-Cas9.
- Unlike CRISPR-Cas9, base editing does not make a double-strand break. Rather, it enables targeted single-base conversions with the help of a Cas9 enzyme fused to a base-modifying enzyme.
- This allows scientists to fix the mispairing of the bases by changing one specific base.
- For instance, mispaired A-C bases can be corrected to A-T by converting C to T.