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Updated: Feb 5, 2026

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model
Published on: March 9, 2022
Mitochondrial dysfunction in methylmalonic acidemia: A pilot study using Seahorse technology in peripheral blood
Sinziana Stanescu1, Olatz Villate2, Fernando Andrade3
1Metabolic Diseases Unit, MetabERN, Pediatric Department, University Hospital Ramón y Cajal, Madrid, Spain.
This study shows that lymphocytes from methylmalonic acidemia (MMA) patients have impaired mitochondrial and glycolytic function. Triheptanoin improved ATP production and glycolysis in these cells, suggesting a potential therapeutic avenue for MMA complications.
Area of Science:
- Biochemistry
- Metabolic Disorders
- Mitochondrial Biology
Background:
- Isolated methylmalonic acidemia (MMA) is an inherited metabolic disorder often leading to chronic complications like basal ganglia lesions and kidney impairment.
- Secondary mitochondrial dysfunction is implicated in MMA's long-term complications, even with good metabolic control.
- Current methods for assessing mitochondrial function are invasive, necessitating safer alternatives.
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