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Potential Treatment for Genetic Disorder Discovered
Source: Adam Gault/Getty Images
February 3, 2021
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Hutchinson-Gilford progeria syndrome (HGPS) is a genetic condition characterized by the dramatic, rapid appearance of aging beginning in childhood. The prevalence of HGPS is approximately 1 in 20 million, so at any given time, there are approximately 400 children living with progeria worldwide. As of December 2020, the Progeria Research Foundation International Progeria Registry had identified a total of 131 children and young adults living with progeria worldwide including 20 living in the United States. Now, scientists have identified a potential new treatment approach in mice for treating the rare genetic condition.
The findings in mice were published in the journal
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Scientists have identified a potential new treatment approach for Hutchinson-Gilford progeria syndrome (HGPS), a progressive genetic disorder that causes rapid and premature aging in children.
The findings in mice, published today in
eLife, show that blocking a protein called ICMT can improve the condition of affected cells without reducing cell division and growth. ICMT is involved in modifying the structure of progerin, the mutant protein that causes HGPS.
These results suggest that ICMT could be a useful drug target to treat HGPS, especially as cell division and growth are important for development in children.
HGPS is caused by progerin, a mutant protein which undergoes two types of structural modifications called farnesylation and methylation. Progerin accumulates between the membranes that surround the cell nucleus, leading to damage that makes cells slow down their growth and die prematurely.