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Synthetic Genes for the Treatment of Propionic Acidemia (PA) Caused by Mutations in Propionyl-coA Carboxylase Alpha (PCCA)
Case ID:
TAB-3625
Web Published:
12/6/2022
Description:
Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by mutations in either PCCA or PCCB. The products of these genes form the alpha and beta subunits of the enzyme propionyl-Co A carboxylase (PCC), a critically important mitochondrial enzyme involved in the catabolism of branched chain amino acids. NHGRI scientist have developed a new set of synthetic PCCA genes that can be used to treat PA caused by PCCA mutation(s). In brief, the amino acid sequence of PCCA was reverse translated, using a variety of algorithms and expert input, to generate novel DNA sequences encoding PCCA (synPCCA) having increased expression. The synPCCA sequences were cloned into a canonical adeno-associated virus (AAV) vector, pseudoserotyped with a serotype 9 capsid and used to rescue PCCA-1-knock-out mice from neonatal lethality and improve their clinical and metabolic phenotypes. Results of pre-clinical efficacy studies demonstrate a promising therapy for PA. Furthermore, because these genes are synthetic, specific nucleotide based-assays are possible for improved detection of the DNA and RNA expressed from these synPCCA genes.
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Direct Link:
https://nih.technologypublisher.com/tech/Synthetic_Genes_for_the_Treatment_of _Propionic_Acidemia_(PA)_Caused_by_Mutations_in_Propionyl-coA_Carboxylase_Al pha_(PCCA)
Category(s):
Therapeutics
Infectious Disease
Cardiology
Oncology
Ophthalmology
Dental
Endocrinology
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:
Randy Chandler
Charles Venditti
Keywords:
Acidemia
ALPHA
Carbox
CAUSED
GENES
Lase
Mutations
PA
Pcca
Propionic
PropionylcoA
Synthetic
treatment
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WIXXXX
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