Mitochondrial DNA depletion syndrome (MTDPS) is a rare genetic disorder characterized by a marked decrease in mitochondrial DNA (mtDNA).
Juntendo UniversityNov 25 2024 Mitochondrial DNA depletion syndrome is a rare genetic disorder characterized by a marked decrease in mitochondrial DNA . This condition can cause symptoms including muscle weakness, fatigue, and neurological issues, particularly affecting the liver and brain in cases of hepatocerebral MTDPS. Mitochondrial diseases, which represent some of the most common types of metabolic disorders , can result in the failure of multiple organ systems.
The study focused on a young patient who presented with severe liver dysfunction, including cirrhosis and developmental delays. Despite undergoing a liver transplant, the patient continued to experience neurological symptoms. Laboratory tests revealed defects in the mitochondrial respiratory chain, alongside a significant reduction in mtDNA levels. When the mtDNA in the liver tissue removed during the transplant was quantified, it was found to be only 23.
Functional studies conducted in patient-derived fibroblast cells showed that restoring MICOS10 expression improved mitochondrial respiration, evidenced by increased oxygen consumption, and rescued abnormalities of the cristae structures in patient's fibroblasts. This research confirmed the crucial role of MICOS10 in maintaining mitochondrial structure and function.
Genetic Syndrome Brain Diagnostics Exon Fatigue Gene Genes Genetic Disorder Genome Genomic Liver Medicine Metabolic Disorders Muscle Mutation Research RNA RNA Sequencing Transplant Whole Genome Sequencing
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