Technology ID
TAB-3607

Mouse Model of Cobalamin A (cblA) Class Isolated Methylmalonic Acidemia (MMA) to Study New Therapies

E-Numbers
E-050-2017-0
Lead Inventor
Venditti, Charles (NHGRI)
Co-Inventors
Manoli, Eirini (Irini) (NHGRI)
Applications
Therapeutics
Research Materials
Diagnostics
Therapeutic Areas
Ophthalmology
Oncology
Neurology
Infectious Disease
Endocrinology
Dental
Cardiology
Lead IC
NHGRI
ICs
NHGRI
Isolated Methylmalonic Acidemia (MMA) comprises a relatively common and heterogeneous group of inborn errors of metabolism. Most affected individuals display severe multisystemic disease characterized by metabolic instability, chronic renal disease, and neurological complications. Patients with the cobalamin A (cblA) subtype of MMA can have variable presentations, spanning the full spectrum of MMA associated symptoms and pathology, yet always harbor an element of clinical and biochemical responsiveness to injectable vitamin B12. NHGRI scientist have developed a model that would allow the testing of new therapies for cblA type MMA, and other forms of isolated MMA, they utilized homologous recombination to create a deletion allele of Mmaa, the enzyme that protects the enzyme methylmalonyl-CoA mutase, Mut, from oxidative inactivation. The NGHRI mouse model generated is severely affected but shows an element of vitamin B12 responsiveness which makes it useful for therapeutic studies in that an investigator can compare their intervention/results to that obtained with the vitamin cofactor as a control.
Commercial Applications
Useful for the study of new small molecule or mitochondrial based therapies for MMA, or more generally, therapies designed to improve mitochondrial function.

Competitive Advantages
This mouse model is the first tractable animal model of cblA deficiency.
Licensing Contact:
Campbell, Eggerton
eggerton.campbell@nih.gov
Phone: 301-402-1648