ArticleOrphanet journal of rare diseases2020
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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30 citing papers in PubMed, 44 citations in OpenAlex.
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- A New Perspective on the Role of Alterations in Mitochondrial Proteins Involved in ATP Synthesis and Mobilization in Cardiomyopathies.International journal of molecular sciences · 2025Review
- Mitochondrial diseases: from molecular mechanisms to therapeutic advances.Signal transduction and targeted therapy · 2025Review
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- Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.European journal of neurology · 2025Article
- Comprehensive review of mitochondrial nephropathy-a renal phenotype in mitochondrial disease: causative genes, clinical and pathological features, diagnosis, prognosis, and treatment.Clinical and experimental nephrology · 2025Review
- NADH Reductive Stress and Its Correlation with Disease Severity in Leigh Syndrome: A Pilot Study Using Patient Fibroblasts and a Mouse Model.Biomolecules · 2024Article
- Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome.Orphanet journal of rare diseases · 2024Article
- Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies.Molecular syndromology · 2024Article
- Favorable Outcome after Liver Transplantation in an Infant with Liver Failure Due to Deoxyguanosine Kinase Deficiency.Journal of clinical medicine · 2024Article
- Newborn Genetic Screening: Significance in Early Diagnosis of an Infant with Mitochondrial DNA Depletion Syndrome-6.Journal of obstetrics and gynaecology of India · 2024Article
- Liver transplantation for mitochondrial DNA depletion syndrome caused byFrontiers in surgery · 2024Article
- MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2023Article
- Total and reduced/oxidized forms of coenzyme QMolecular genetics and metabolism reports · 2023Article
- Deoxyguanosine kinase mutation F180S is associated with a lean phenotype in mice.International journal of obesity (2005) · 2023Article
- Mitochondrial depletion syndrome type 3: the Lebanese variant.Frontiers in genetics · 2023Article
- Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocrine reviews · 2022Article
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Authors and funding
24 authors at 6 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundHepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mitochondrial DNA maintenance and leads to liver failure and neurological complications during infancy. Liver transplantation (LT) remains controversial due to poor outcomes associated with extrahepatic symptoms. The purposes of this study were to clarify the current clinical and molecular features of hepatocerebral MTDPS and to evaluate the outcomes of LT in MTDPS patients in Japan.
resultsWe retrospectively assessed the clinical and genetic findings, as well as the clinical courses, of 23 hepatocerebral MTDPS patients from a pool of 999 patients who were diagnosed with mitochondrial diseases between 2007 and 2019. Causative genes were identified in 18 of 23 patients: MPV17 (n = 13), DGUOK (n = 3), POLG (n = 1), and MICOS13 (n = 1). Eight MPV17-deficient patients harbored c.451dupC and all three DGUOK-deficient patients harbored c.143-307_170del335. The most common initial manifestation was failure to thrive (n = 13, 56.5%). The most frequent liver symptom was cholestasis (n = 21, 91.3%). LT was performed on 12 patients, including nine MPV17-deficient and two DGUOK-deficient patients. Among the 12 transplanted patients, five, including one with mild intellectual disability, survived; while seven who had remarkable neurological symptoms before LT died. Five of the MPV17-deficient survivors had either c.149G > A or c.293C > T.
conclusionsMPV17 was the most common genetic cause of hepatocerebral MTDPS. The outcome of LT for MTDPS was not favorable, as previously reported, however, patients harboring MPV17 mutations associated with mild phenotypes such as c.149G > A or c.293C > T, and exhibiting no marked neurologic manifestations before LT, had a better prognosis after LT.
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