Liver pathology in hepato-cerebral mitochondrial depletion syndromes due to POLG1, DGUOK, 146or MPV17 variants
نویسندگان
چکیده
منابع مشابه
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (previously known as Navajo neurohepatopathy) was discovered in children in the Four Corner's region of New Mexico approximately 40 years ago. This disease is associated with a single missense mutation in exon 2 in the MPV17 gene. The syndrome has now been recognized world-wide. We find that huge quantities of neurotoxins were pr...
متن کاملMPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome
MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MDS) is a very rare condition, and only a few cases have been reported in East Asian countries. Here, we describe four Korean children affected by hepatocerebral MDS. The DGUOK, POLG1, and MPV17 genes were analyzed, and all patients had MPV17 mutations.
متن کاملIn vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.
Mitochondrial DNA depletion syndrome, a frequent cause of childhood (hepato)encephalomyopathies, is defined as a reduction of mitochondrial DNA copy number related to nuclear DNA. It was previously shown that mtDNA depletion can be prevented by dAMP/dGMP supplementation in deoxyguanosine kinase-deficient fibroblasts. We investigated myotubes of patients diagnosed with mtDNA depletion carrying p...
متن کاملHepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
BACKGROUND Autosomal recessive mutations in MPV17 (OMIM *137960) have been identified in the hepatocerebral form of mitochondrial DNA depletion syndrome (MDS). OBJECTIVE To describe the clinical, morphologic, and genetic findings in 3 children with MPV17-related MDS from 2 unrelated families. DESIGN Case report. SETTING Academic research. MAIN OUTCOME MEASURES We identified 3 novel path...
متن کاملMPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
Mitochondrial DNA depletion syndromes are autosomal recessive diseases characterized by a severe decrease in mitochondrial DNA content leading to dysfunction of the affected organ. They are phenotypically heterogeneous and classified as myopathic, encephalomyopathic, or hepatocerebral. The latter group has been associated with mutations in TWINKLE,POLG1, DGUOK genes and recently with mutations ...
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ژورنال
عنوان ژورنال: Polish Journal of Pathology
سال: 2019
ISSN: 1233-9687
DOI: 10.5114/pjp.2019.87107