Faculty mentor/PI email address

lchen@coriell.org

Keywords

Propionic Acidemia, PCCA deficiency, Acetate donors, HepG2 / PCCA‑null HepG2 cells

Date of Presentation

5-6-2026 12:00 AM

Poster Abstract

Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by deficiency of propionyl-CoA carboxylase, resulting in toxic metabolite accumulation and impaired energy production. Current treatments are largely supportive, highlighting the need for targeted metabolic therapies. This study evaluates whether acetate donors can improve cell viability in a PA model.

Human hepatocyte (HepG2) control and PCC-deficient (PCCΔ) cells were treated with triacetin, sodium acetate, or acetylcarnitine. Dose-response studies (0.1–10 mM) showed no cytotoxicity. Propionate exposure identified 800 μM as an optimal stress condition that reduced viability without excessive cell death.

Under propionate-induced stress, all acetate donors improved cell viability compared to untreated controls. Acetylcarnitine demonstrated the greatest effect in PCCΔ cells, increasing viability by approximately 5–10% relative to other treatments. These findings suggest acetate supplementation may help restore metabolic balance and support energy production in PA.

In conclusion, acetate donors—particularly acetylcarnitine—exhibit cytoprotective effects without toxicity in a cellular model of PA. These results support further investigation of acetate-based therapies, including studies on CoA metabolism, mitochondrial function, and validation in in vivo models.

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May 6th, 12:00 AM

Treatment of Propionic Acidemia with Acetate Donors

Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by deficiency of propionyl-CoA carboxylase, resulting in toxic metabolite accumulation and impaired energy production. Current treatments are largely supportive, highlighting the need for targeted metabolic therapies. This study evaluates whether acetate donors can improve cell viability in a PA model.

Human hepatocyte (HepG2) control and PCC-deficient (PCCΔ) cells were treated with triacetin, sodium acetate, or acetylcarnitine. Dose-response studies (0.1–10 mM) showed no cytotoxicity. Propionate exposure identified 800 μM as an optimal stress condition that reduced viability without excessive cell death.

Under propionate-induced stress, all acetate donors improved cell viability compared to untreated controls. Acetylcarnitine demonstrated the greatest effect in PCCΔ cells, increasing viability by approximately 5–10% relative to other treatments. These findings suggest acetate supplementation may help restore metabolic balance and support energy production in PA.

In conclusion, acetate donors—particularly acetylcarnitine—exhibit cytoprotective effects without toxicity in a cellular model of PA. These results support further investigation of acetate-based therapies, including studies on CoA metabolism, mitochondrial function, and validation in in vivo models.

 

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