Yoshihito Kishita
Juntendo University
Publications 30
#1Masaru Shimura (Boston Children's Hospital)H-Index: 5
#2Naoko NozawaH-Index: 1
Last.Kei Murayama (Boston Children's Hospital)H-Index: 18
view all 16 authors...
Mitochondrial respiratory chain complexes II, III, and IV and cytochrome c contain haem, which is generated by the insertion of Fe2+ into protoporphyrin IX. 5-Aminolevulinic acid (ALA) combined with sodium ferrous citrate (SFC) was reported to enhance haem production, leading to respiratory complex and haem oxygenase-1 (HO-1) upregulation. Here, we investigated the effects of different concentrations of ALA and SFC alone or in combination (ALA/SFC) on fibroblasts from 8 individuals with mitochon...
Next-generation sequencing (NGS) is a revolutionary sequencing technology for analyzing genomes. However, preprocessing methods for mitochondrial DNA (mtDNA) sequencing remain complex, and it is required to develop an authenticated preprocessing method. Here, we developed a simple and easy preprocessing method based on isothermal rolling circle mtDNA amplification using commercially available reagents. Isothermal amplification of mtDNA was successfully performed using both nanoliter quantities o...
#1Rei Takada (Kyoto Prefectural University of Medicine)
#2Takenori Tozawa (Kyoto Prefectural University of Medicine)H-Index: 5
Last.Tomohiro Chiyonobu (Kyoto Prefectural University of Medicine)H-Index: 15
view all 9 authors...
Abstract Background The mitochondrial DNA MT-ATP6 gene encodes the ATP6 subunit of the mitochondrial ATP synthase. The m.9185 T > C variant in MT-ATP6 has been reported to cause various neurological disorders including late-onset Leigh syndrome (LS). To our knowledge, there has been no reported case of infantile-onset LS associated with the m.9185 T > C variant. Herein, we report a patient with early-onset LS complicated with infantile spasms who exhibited profound developmental delay. Case repo...
#1Nurun Nahar Borna (Juntendo University)H-Index: 2
#2Yoshihito Kishita (Juntendo University)H-Index: 11
Last.Yasushi Okazaki (Juntendo University)H-Index: 53
view all 15 authors...
Pentatricopeptide repeat domain proteins are a large family of RNA-binding proteins involved in mitochondrial RNA editing, stability, and translation. Mitochondrial translation machinery defects are an expanding group of genetic diseases in humans. We describe a patient who presented with low birth weight, mental retardation, and optic atrophy. Brain MRI showed abnormal bilateral signals at the basal ganglia and brainstem, and the patient was diagnosed as Leigh syndrome. Exome sequencing reveale...
4 CitationsSource
#1Keiichi Hirono (University of Toyama)H-Index: 16
#2Fukiko Ichida (University of Toyama)H-Index: 30
Last.Kei Murayama (Boston Children's Hospital)H-Index: 18
view all 12 authors...
#1Atsuko Imai-Okazaki (Juntendo University)H-Index: 1
#2Yoshihito Kishita (Juntendo University)H-Index: 11
Last.Yasushi Okazaki (Juntendo University)H-Index: 53
view all 16 authors...
Abstract Background Cardiomyopathy is a reported indicator of poor prognosis in children with mitochondrial disease. However, the association between prognosis and the genetic background of cardiomyopathy in children with mitochondrial disease has yet to be fully elucidated. Methods and results Of 137 children with mitochondrial disease whose genetic diagnosis was made between 2004 and 2018, 29 had mitochondrial cardiomyopathy (21%). After a median follow-up of 35 months, the overall survival ra...
1 CitationsSource
#1Carol-Anne Martin (Edin.: University of Edinburgh)H-Index: 8
#2Kata Sarlós (UCPH: University of Copenhagen)H-Index: 8
Last.Andrew P. Jackson (Edin.: University of Edinburgh)H-Index: 38
view all 51 authors...
Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs) on cytogenetic testing. Here, we describe biallelic mutations in TOP3A in ten individuals with prenatal-onset growth restriction and microcephaly. TOP3A encodes topoisomerase III alpha (TopIIIα), whi...
11 CitationsSource
#1Akihiko Miyauchi (Jichi Medical University)H-Index: 6
#2Hitoshi Osaka (Jichi Medical University)H-Index: 10
Last.Takanori Yamagata (Jichi Medical University)H-Index: 21
view all 11 authors...
Abstract Leigh syndrome, which is a common phenotype of pediatric mitochondrial disease, is a progressive neurodegenerative disease. The typical neuroimaging findings of Leigh syndrome include bilateral symmetric lesions in the basal ganglia and/or the brainstem. However, there are a few reports on spinal cord involvement in patients with Leigh syndrome. In the present case, magnetic resonance imaging (MRI) obtained during infancy revealed symmetric lesions in the substantia nigra of a patient w...
4 CitationsSource
#1Kana Asano (UTokyo: University of Tokyo)H-Index: 3
#2Takeo Suzuki (UTokyo: University of Tokyo)H-Index: 28
Last.Tsutomu Suzuki (UTokyo: University of Tokyo)H-Index: 59
view all 17 authors...
26 CitationsSource