A5036693605- Mitochondrial Function and Pathology
- Autoimmune Neurological Disorders and Treatments
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Genetic Neurodegenerative Diseases
- Neurological and metabolic disorders
- Genetics and Neurodevelopmental Disorders
- Advanced MRI Techniques and Applications
- RNA regulation and disease
- S100 Proteins and Annexins
- Glycogen Storage Diseases and Myoclonus
- Parkinson's Disease Mechanisms and Treatments
- Amyotrophic Lateral Sclerosis Research
- Peripheral Neuropathies and Disorders
- Alzheimer's disease research and treatments
- Neuroscience and Neuropharmacology Research
- RNA and protein synthesis mechanisms
- Ion channel regulation and function
- Prion Diseases and Protein Misfolding
- RNA modifications and cancer
- Alcoholism and Thiamine Deficiency
- Epilepsy research and treatment
- Infectious Encephalopathies and Encephalitis
- Neurological diseases and metabolism
- Cancer, Hypoxia, and Metabolism
Fukui Prefectural University
2016-2025
University of Fukui
2012-2023
Kyoto University
2017-2018
University of Fukui Hospital
2012-2017
Maebashi Red Cross Hospital
2013
Kyoto Prefectural University of Medicine
2013
Showa University
2013
Gunma University
2013
Aichi Prefectural University
2004
Aichi Human Service Center
2002
The pathogenetic mechanism of the mitochondrial tRNA(LeuUUR) gene mutation responsible for MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) syndrome was investigated in transformants obtained by transfer mitochondria from three genetically unrelated patients into human DNA (mtDNA)-less (rho 0) cells. Marked defects protein synthesis respiratory activity were observed containing virtually pure mutant mtDNA, as compared to parent rho 0 cells (the 143B...
The segregation of mutant and wild-type mtDNA was investigated in transformants constructed by transferring human mitochondria from individuals belonging to four pedigrees with the MELAS encephalomyopathy-associated mutation (MELAS is mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes) into mtDNA-less (rho 0) cells. Five 13 clonal cell lines containing mixtures mtDNAs were found undergo a rapid shift their genotype toward pure type. other 8 lines, which included 6...
Mitochondrial DNA (mtDNA) is highly polymorphic, and its variations in humans may contribute to individual differences function as well susceptibility various diseases such Parkinson disease, Alzheimer bipolar disorder, cancer. However, it unclear whether how mtDNA polymorphisms affect intracellular function, calcium signaling or pH regulation. Here we searched for that have functional significance using transmitochondrial hybrid cells (cybrids) carrying ratiometric Pericam (RP), a...
The rules that govern complementation of mutant and wild-type mitochondrial genomes in human cells were investigated under different experimental conditions. Among transformants derived from an individual affected by the MERRF (myoclonus epilepsy associated with ragged red fibers) encephalomyopathy carrying heteroplasmic form tRNA(Lys) mutation syndrome, normal protein synthesis respiration was observed when DNA exceeded 10% total complement. In these transformants, protective effect shown...
<h3>Objective:</h3> To clarify the genetic, clinicopathologic, and neuroimaging characteristics of patients with hereditary diffuse leukoencephalopathy spheroids (HDLS) colony stimulating factor 1 receptor (<i>CSF-1R</i>) mutation. <h3>Methods:</h3> We performed molecular genetic analysis <i>CSF-1R</i> in HDLS. Detailed clinical findings were retrospectively investigated. Five examined neuropathologically. <h3>Results:</h3> found 6 different mutations 7 index from unrelated Japanese...
Learning is known to facilitate our ability detect targets in clutter and optimize brain processes for successful visual recognition. Previous brain-imaging studies have focused on identifying spatial patterns (i.e., areas) that change with learning, implicating occipitotemporal frontoparietal areas. However, little about the interactions within this network mediate learning-dependent improvement complex perceptual tasks discrimination of forms clutter). Here we take advantage complementary...
To examine the efficacy and safety of therapeutic regimen using oral intravenous l-arginine for pediatric adult patients with mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes (MELAS). In presence absence an ictus within 6 h prior to assessment, we correspondingly conducted systematic administration 15 10 MELAS in two, 2-year, prospective, multicenter clinical trials at medical institutions Japan. Subsequently, were followed up 7 years. The primary endpoint trial...
<b><i>Article abstract</i></b> The authors performed a serial study of patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like syndrome (MELAS) who presented diffusion-weighted MRI (DWI). DWI demonstrated higher apparent diffusion coefficient in the lesion than control region during acute stage stroke. Vasogenic edema is present episodes MELAS.
<b><i>Background:</i></b> Hashimoto’s encephalopathy (HE) presents with a variety of neurologic and neuropsychiatric features. In this study, we investigated the clinical immunological profiles cerebellar ataxic form HE. <b><i>Methods:</i></b> The features, treatments, laboratory brain imaging, serum anti-NH<sub>2</sub>-terminal α-enolase autoantibodies (anti-NAE Abs), useful diagnostic marker for HE, were in 13 patients who...