Related Experiment Video
Updated: Apr 25, 2026

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model
Published on: March 9, 2022
Mitochondrial DNA depletion syndrome causing liver failure
Sunita Bijarnia-Mahay1, Neelam Mohan, Deepak Goyal
1Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi; and *Department of Pediatric Gastroenterology, Hepatology and Liver Transplantation, Medanta - The Medicity, Gurgaon. Correspondence to: Dr Sunita Bijarnia-Mahay, Senior Consultant, Center of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi 110 060, India. bijarnia@gmail.com.
Background:
Mitochondrial DNA depletion syndromes are disorders of Mitochondrial DNA maintenance causing varied manifestations, including fulminant liver failure.
Case Characteristics:
Two infants, presenting with severe fatal hepatopathy.
Observation:
Raised serum lactate, positive family history (in first case), and absence of other causes of acute liver failure.
Outcome:
Case 1 with homozygous mutation, c.3286C>T (p.Arg1096Cys) in POLG gene and case 2 with compound heterozygous mutations, novel c.408T>G (p.Tyr136X) and previously reported c.293C>T (p.Pro98Leu), in MPV17 gene.
Message:
Mitochondrial DNA depletion syndrome is a rare cause of severe acute liver failure in children.
More Related Videos
Related Concept Videos
Animal Mitochondrial Genetics
Hepatic Encephalopathy
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test
ATP Synthase: Mechanism
Inborn Errors of Metabolism
Electron Transport Chain: Complex I and II
ROS generation is regulated and maintained at moderate levels necessary...

