This technology is a treatment for GUK1-associated mitochondrial DNA depletion-deletions syndrome (MDDS), targeting nucleotide metabolism for DNA repair and replication.
Mitochondrial DNA depletion-deletion syndromes (MDDS) are a rare collection of diseases that are characterized by reductions or deletions of mitochondrial DNA, displaying a broad range of pathologies that affect a wide range of organ systems throughout the body depending on the specific mutation. There are currently no available FDA-approved therapeutics for these syndromes; current treatment options focus on palliative care but fail to address the underlying mitochondrial dysfunction and DNA instability caused by dysfunctional nucleotide metabolism.
This technology identifies GUK1 mutations as a driver for a unique form of mitochondrial DNA depletion-deletion syndrome (MDDS) and proposes a therapeutic strategy of delivering deoxyguanosine, forodesine, or a combination of both to restore nucleotide metabolism. Correcting the nucleotide imbalance facilitates proper mitochondrial DNA repair and replication, addressing the root cause of mitochondrial dysfunction in GUK1-mutant MDDS. Additionally, this technology introduces novel mouse models of GUK1-mutant MDDS, essential for studying pathology and testing therapeutic interventions that cannot be evaluated in mouse models.
Patent Pending(WO/2019/028108)
IR CU23197
Licensing Contact: Kristin Neuman