A5006224464- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- HIV Research and Treatment
- Metalloenzymes and iron-sulfur proteins
- Organ Transplantation Techniques and Outcomes
- Urological Disorders and Treatments
- Dermatology and Skin Diseases
- HIV/AIDS drug development and treatment
- Allergic Rhinitis and Sensitization
- HIV-related health complications and treatments
- Carbohydrate Chemistry and Synthesis
- Diet and metabolism studies
- Heme Oxygenase-1 and Carbon Monoxide
- Folate and B Vitamins Research
- RNA regulation and disease
- CNS Lymphoma Diagnosis and Treatment
- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Neonatal Health and Biochemistry
- Cervical Cancer and HPV Research
- Tissue Engineering and Regenerative Medicine
- Hemoglobin structure and function
- Cardiac, Anesthesia and Surgical Outcomes
- Systemic Sclerosis and Related Diseases
Jikei University School of Medicine
2023
Yahoo (United Kingdom)
2023
Creative Commons
2023
Chiba Hospital
2018-2021
Tokyo University of Science
2002-2018
Kumamoto University
1998-2015
RIKEN Center for Integrative Medical Sciences
2007
Abstract Leigh syndrome is a major phenotype of mitochondrial diseases in children. With new therapeutic options being proposed, assessing the mortality and clinical condition patients crucial for evaluating therapeutics. As data are scarce Japan, we analysed rate Japanese that diagnosed since 2007. Data from 166 with 2007 to 2017 were reviewed. Patients' present status, method ventilation feeding, degree disability as April 2018 was analysed. Overall, 124 (74.7%) living, 40 (24.1%)...
Abstract Background Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in maintenance and leads to liver failure neurological complications during infancy. Liver transplantation (LT) remains controversial due poor outcomes associated with extrahepatic symptoms. The purposes of this study were clarify the current clinical molecular features hepatocerebral MTDPS evaluate LT patients Japan. Results We retrospectively assessed genetic findings, as well...
Mitochondrial respiratory chain complexes II, III, and IV 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 complex oxygenase-1 (HO-1) upregulation. Here, we investigated effects different concentrations ALA SFC alone or in combination (ALA/SFC) on fibroblasts from 8 individuals mitochondrial diseases healthy controls. In normal...
Cardiomyopathy is a risk factor for poor prognosis in pediatric patients with mitochondrial disease. However, other factors including genetic related to disease has yet be fully elucidated.Between January 2004 and September 2019, we enrolled 223 consecutive aged <18 years confirmed diagnosis, 114 nuclear gene mutations, 89 DNA (mtDNA) point 11 mtDNA single large-scale deletions 9 chromosomal aberrations. at baseline was observed 46 (21%). Hazard ratios (HR) 95% confidence intervals (CI) were...
Human immunodeficiency virus type 1 (HIV-1) must take advantage of its own proteins with two or more functions to successfully replicate. Although many attempts have been made determine the function viral encoded in HIV-1 genome, role p2 peptide, a spacer between capsid and nucleocapsid Gag early-phase HIV infection still remains unclarified. In this study, we show that peptide enhances acute by increasing intracellular ATP production via activation mitochondrial cytochrome c oxidase (MT-CO)...
Objective Neonatal-onset mitochondrial disease has not been fully characterised owing to its heterogeneity. We analysed neonatal-onset in Japan clarify clinical features, molecular diagnosis and prognosis. Design Retrospective observational study from January 2004 March 2020. Setting Population based. Patients (281) with diagnosed by biochemical genetic approaches. Interventions None. Main outcome measures Disease types, initial symptoms, findings, Results Of the 281 patients, multisystem...
Key Clinical Message We identified novel compound heterozygous TMEM70 variants in a Japanese patient who had hyperlactacidemia, metabolic acidosis, hyperalaninemia, developmental delay, undescended testicle, and left ventricular noncompaction. The urinary organic acids profile revealed elevated levels of 3‐ MGA , BN ‐ PAGE /Western blotting analysis ETC. activity confirmed complex V deficiency.
Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities is an extremely rare autosomal recessive mitochondrial disease caused by biallelic mutations in MECR. Using whole-exome sequencing, we identified a novel homozygous MECR mutation (c.910G > T, p.Asp304Tyr) Chinese patient childhood-onset abnormalities, without atrophy. With lipoic acid treatment, the progression was under control, neither visual impairment nor observed. To our knowledge, this first study about...
The detoxification of ammonia to urea requires a functional hepatic cycle, which consists six enzymes and two mitochondrial membrane transporters. initial step the cycle is catalyzed by carbamyl phosphate synthetase 1 (CPS1). CPS1 deficiency (CPS1D) rare autosomal recessive disorder. N-Carbamylglutamate (NCG), deacylase-resistant analogue N-acetylglutamate, can activate CPS1. We describe therapeutic course patient suffering from neonatal onset CPS1D with compound heterozygosity for c.2359C >...
The mouse vagina consists of stratified squamous epithelium and stroma is regulated by ovarian hormones. Vaginal epithelial cells do not stratify, but rather form a monolayer show an inconsistent responsiveness to hormones when cultured on plastic dish or matrix. To address the discrepancy between in vivo vitro observations, three-dimensional (3D) co-culture models are developed with clonal vaginal stromal cell lines; embedded collagen gel seeded gel. In 3D models, express Transformation...
Background Progressive cavitating leukoencephalopathy (PCL) is thought to result from mutations in nuclear genes affecting mitochondrial function and energy metabolism. To date, two subunits of complex I, NDUFS1 NDUFV1 , have been reported be related PCL. Methods Patients underwent clinical examinations, brain MRI, skin biopsy muscle biopsy. Whole-genome or whole-exome sequencing was performed on the index patients unrelated families with The effects were examined through complementation...
Glycogen storage disease type IV (GSD IV) is a rare inborn metabolic disorder characterized by the accumulation of amylopectin-like glycogen in liver or other organs. The hepatic subtype may appear normal at birth but rapidly develops to cirrhosis infancy. Liver pathological findings help diagnose form disease, supported analyses enzyme activity and GBE1 gene variants. Pathology usually shows periodic acid-Schiff (PAS) positive hepatocytes resistant diastase. We report two cases GSD with...
Abstract Background Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in maintenance and leads to liver failure neurological complications during infancy. Liver transplantation (LT) remains controversial due poor outcomes associated with extrahepatic symptoms. The purposes of this study were clarify the current clinical molecular features hepatocerebral MTDPS evaluate LT patients Japan. Results We retrospectively assessed genetic findings, as well...
Nemolizumab was approved in Japan August 2022 to treat patients with atopic dermatitis (AD). The study objective evaluate its effectiveness controlling AD symptoms the real world postmarketing. Eleven Japanese treated nemolizumab were assessed at 12 weeks for clinical manifestations, scores Visual Analog Scale and Eczema Area Severity Index, serum biomarkers. Index significantly decreased by 80% 66.4%, showing improved both itch skin lesions. However, several biomarkers did not change during...
Abstract Background Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in maintenance and leads to liver failure neurological complications during infancy. Liver transplantation (LT) remains controversial due poor outcomes associated with extrahepatic symptoms. The purposes of this study were clarify the current clinical molecular features hepatocerebral MTDPS evaluate LT patients Japan. Results We retrospectively assessed genetic findings, as well...