Treating Transthyretin Amyloidosis-Cardiomyopathy with CRISPR


CRISPR-Cas9 gene editing technique gained attention when two female scientists, Emmanuelle Charpentier and Jennifer Doudna, were awarded the Nobel Prize in the year 2020 in Chemistry for their contribution to this gene editing field. CRISPR gene editing has helped in treatment advances in the medical field and different diseases.

Transthyretin Amyloidosis (ATTR-CM)

  • This approach moved a milestone when this concept was applied, and the edited genes were directly injected into the bloodstream of a patient with a rare genetic condition. The rare condition is known as transthyretin amyloidosis, which is a protein disorder. It is thought to afflict 50,000 people worldwide and has only one approved drug Patisiran used to stabilize it. Patisiran, marketed under the trade name Onpattro, is used to treat polyneuropathy in patients with this condition.
  • Transthyretin amyloidosis (ATTR-CM) is a genetic protein disorder that causes the liver to produce faulty transthyretin (TTR) proteins. The TTR gene produces these proteins for transporting vitamin A or (retinol) and thyroxine hormone throughout the body.
  • Abnormal proteins in the form of clumps or fibrils start building up in the heart’s chamber. The left ventricle becomes stiff and weak with the development of cardiomyopathy. As a whole, the heart finds it difficult to pump blood to the body.

CRISPR gene editing for treatment

  • A CRISPR trial consisting of 4 men and 2 women between 46-64 years with the rare condition were recruited for treatment. They were injected with a lipid particle carrying two different RNAs—CAs protein coding-mRNA, the CRISPR component that snips DNA, and a guide RNA that leads for TTR gene. The gene becomes inactive after Cas makes its cut because the DNA repair machinery of the cell is unable to successfully repair the break.
  • According to a study conducted, 3 men who received the higher of the 2 therapy doses saw a drop in TTR levels of 80% to 96% after 28 days, which is comparable to or better than the average reduction of 81% observed with Patisiran. This RNA drug temporarily silences the production of TTR and hence needs regular injections for proper outcomes.
  • Patients undergoing the CRISPR treatment may need several months to notice a reduction in their symptoms, although they may have experienced few short-term negative effects. This lipid-encased mRNA technique is potent and safe.


The research lays the path for using CRISPR to treat other liver conditions, either by deleting a gene or modifying it using a DNA template. By modifying the gene, an enzyme required elsewhere in the body could be produced in the liver. Wasn’t it an interesting read? DO visit our website for more such content. You can mail us at for your queries.


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