MSUD is a genetic disorder caused by mutations in genes responsible for breaking down certain amino acids.
This leads to neurological symptoms and life-threatening brain damage.
Current treatments are limited to strict diets or liver transplants.
Solution:
Scientists have developed a gene therapy using an adeno-associated viral vector.
This therapy delivers functional copies of the BCKDHA and BCKDHB genes.
BCKDHA and BCKDHB are genes that provide instructions for making the branched-chain alpha-keto acid dehydrogenase (BCKD) enzyme complex. The BCKD complex is responsible for breaking down amino acids like leucine, isoleucine, and valine. Mutations in these genes can cause maple syrup urine disease (MSUD)
The therapy was successful in knockout cells and safe in wild-type mice.
It also prevented death in newborn mice with MSUD.
Success in a Calf:
The therapy was administered to a calf born with MSUD.
The calf grew normally and was able to transition to a regular, high-protein diet over two years.
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