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Aberrant Post-translational Modifications (PTMs) in Methyl- and Propionic Acidemia and the Construction of a Novel Sirtuin (SIRT) Gene to Metabolize PTMs
Case ID:
TAB-3610
Web Published:
12/6/2022
Description:
Isolated Methylmalonic Acidemia (MMA) and the related disorder Propionic Acidemia (PA) comprise a relatively common and heterogeneous group of inborn errors of metabolism. NHGRI scientist discovered that in isolated MMA, a novel inhibitory PTM, methylmalonyllysine, is generated and inactivates protein targets through the failure of SIRT-mediated deacylation, and identified a series of antibodies for PTM specificity. A novel acylation resistant SIRT5 was created that did not exhibit enzymatic inhibition after hyper-methylmalonylation and appears to be resistant to inhibition by nicotinamide, which may be a universal therapy for all forms of MMA and PA. The scientist also developed a new assay involving sirtuin modulation, for targeted therapies that might be widely applicable to all forms of MMA as well as other the larger group of organic acidemias and fatty acid oxidation disorders where acyl-CoA accretion occurs. The new assays will be useful to develop small molecules that stimulate removal of methylmalonyl- and propionyl- groups for novel therapies.
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Direct Link:
https://nih.technologypublisher.com/tech/Aberrant_Post-translational_Modifica tions_(PTMs)_in_Methyl-_and_Propionic_Acidemia_and_the_Construction_of_a_Nov el_Sirtuin_(SIRT)_Gene_to_Metabolize_PTMs
Category(s):
Endocrinology
Dental
Oncology
Cardiology
Ophthalmology
Therapeutics
Infectious Disease
Research Materials
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For Information, Contact:
Eggerton Campbell
Licensing And Patenting Manager
NIH Technology Transfer
301-402-1648
eggerton.campbell@nih.gov
Inventors:
PamelaSara Head
Charles Venditti
Keywords:
Aberrant
Acidemia
Construction
Discovery
Ene
Metabolize
Methyl-
Modifications
Novel
Post-translational
Propionic
PTMs
Sirt
Sirtuin
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WIXXXX
WKXXXX
XEXXXX
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