June 17, 2024

Breakthrough in Gene Editing Technology Offers Hope for Effective Treatment of Hereditary Liver Disease

Argininosuccinate lyase deficiency (ASLD) is a severe metabolic disorder that disrupts the body’s ability to metabolize proteins, leading to the dangerous accumulation of argininosuccinic acid and ammonia. Excess ammonia levels in the body can result in severe symptoms such as disturbances of consciousness, coma, and even death.

Infants in Finland are routinely screened for ASLD to identify the disease’s risk before any symptoms manifest. Current treatments for ASLD involve strict lifelong dietary restrictions and, in severe cases, a liver transplant.

Researchers from the University of Helsinki and HUS Helsinki University Hospital have made a significant breakthrough in addressing ASLD by successfully correcting the gene defect associated with the disease and demonstrating the potential for curing the harmful metabolic processes caused by ASLD.

In a recent study, the researchers transformed skin cells from ASLD patients into stem cells, followed by using the CRISPR-Cas9 gene editing technique to correct the disease-causing gene defects within the stem cells. The corrected stem cells were then guided to differentiate into liver cells, leading to improved metabolic function and reduced production of harmful argininosuccinic acid.

Docent of Stem Cell Biology Kirmo Wartiovaara, a specialist in medical genetics, highlighted the groundbreaking nature of the study, noting that the gene defect causing ASLD can be corrected with gene editing tools without any adverse effects in the cells. The findings offer hope for potential cures for hereditary diseases by eliminating the underlying gene defects entirely.

Wartiovaara emphasized the importance of ongoing basic research utilizing precise gene-editing techniques like gene scissors in developing permanent solutions for genetic disorders. With over 7,000 hereditary diseases worldwide and limited treatment options available, the emergence of curative therapies through gene editing technologies holds promise for improving outcomes for patients with genetic disorders.

The study, conducted as part of the doctoral theses of Sami Jalil and Timo Keskinen, and supervised at the Biomedicum Stem Cell Center of the Biomedicum Helsinki research institute, represents a significant advancement in the field of genetic medicine. The research team’s success in correcting gene defects associated with ASLD opens new possibilities for developing targeted therapies for hereditary liver diseases and other genetic disorders.

1. Source: Coherent Market Insights, Public sources, Desk research
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