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Mouse Model of Cobalamin A (cblA) Class Isolated Methylmalonic Acidemia (MMA) to Study New Therapies
Case ID:
TAB-3607
Web Published:
12/6/2022
Description:
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.
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Direct Link:
https://nih.technologypublisher.com/tech/Mouse_Model_of_Cobalamin_A_(cblA)_Cl ass_Isolated_Methylmalonic_Acidemia_(MMA)_to_Study_New_Therapies
Category(s):
Oncology
Neurology
Cardiology
Endocrinology
Therapeutics
Ophthalmology
Dental
Infectious Disease
Research Materials
Diagnostics
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For Information, Contact:
Eggerton Campbell
Licensing And Patenting Manager
NIH Technology Transfer
301-402-1648
eggerton.campbell@nih.gov
Inventors:
Eirini (Irini) Manoli
Charles Venditti
Keywords:
Acidemia
cblA
Class
Cobalamin
ISOLATED
Methylmalonic
MMA
Model
Mouse
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