Epilepsy in Leigh Syndrome With Mitochondrial DNA Mutations
نویسندگان
چکیده
منابع مشابه
Mitochondrial DNA Mutations, Pathogenicity and Inheritance
Mitochondria contain their own DNA (mtDNA), which codes for 13 proteins (all subunits of the respiratory chain complexes), 22 tRNAs and 2 rRNAs. Several mtDNA point mutations as well as deletions have been shown to be causative in well-defined mitochondrial disorders. A mixture of mutated and wild type mtDNA (heteroplasmy) is found in most of these disorders. Inheritance of mtDNA is maternal, a...
متن کاملIdentification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA- targeted next-generation sequencing
in the mitochondrial DNA (mtDNA) that lead to oxidative phosphorylation impairment, ATP depletion, cellular dysfunction, and ultimately cell death [1]. Most mitochondrial diseases involve impairment of multiple organs, particularly in tissues with a high energy demand such as nerve and muscle. Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNAta...
متن کاملNovel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome
Leigh syndrome is clinically and genetically heterogeneous, associated with mutations in mitochondrial and nuclear genes.(1) Diagnostic criteria include progressive disorder with motor and intellectual delay/regression; signs and symptoms of brainstem and/or basal ganglia disease; raised lactate concentration in blood and/or CSF; and one or more of the following: (1) characteristic features on ...
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 کاملThe mitochondrial DNA mutations associated with cardiac arrhythmia investigated in an LQTS family
Objective(s): As mitochondrial oxidative stress is probably entailed in ATP production, a candidate modifier factor for the long QT syndrome (LQTS) could be mitochondrial DNA (mtDNA). It has been notified that ion channels' activities in cardiomyocytes are sensitive to the ATP level. Materials and Methods: The sample of the research was an Iranian family with LQTS for mutations by PCR-SSCP and...
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ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2019
ISSN: 1664-2295
DOI: 10.3389/fneur.2019.00496