A5010901642- Tryptophan and brain disorders
- Bipolar Disorder and Treatment
- Genetic Associations and Epidemiology
- Genetic Neurodegenerative Diseases
- Systemic Lupus Erythematosus Research
- Mitochondrial Function and Pathology
- Neuroscience and Neuropharmacology Research
- Forensic and Genetic Research
- Stress Responses and Cortisol
- Metabolism and Genetic Disorders
- Genetic diversity and population structure
- Amino Acid Enzymes and Metabolism
- Inflammatory Bowel Disease
- Lipid Membrane Structure and Behavior
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Genomic variations and chromosomal abnormalities
- Trace Elements in Health
- Lysosomal Storage Disorders Research
- Cholesterol and Lipid Metabolism
- Pituitary Gland Disorders and Treatments
- Genetic Mapping and Diversity in Plants and Animals
- Schizophrenia research and treatment
- Dementia and Cognitive Impairment Research
- Nematode management and characterization studies
- Rheumatoid Arthritis Research and Therapies
National Center of Neurology and Psychiatry
2015-2024
Mie University
2024
Abstract Innovations in sequencing technology have led to the discovery of novel mutations that cause inherited diseases. However, many patients with suspected genetic diseases remain undiagnosed. Long-read technologies are expected significantly improve diagnostic rate by overcoming limitations short-read sequencing. In addition, Oxford Nanopore Technologies (ONT) offers adaptive sampling and computationally driven target enrichment technology. This enables more affordable intensive...
Major depressive disorder (MDD) presumably includes heterogeneous subgroups with differing pathologies. To obtain a marker reflecting such subgroup, we analyzed the cerebrospinal fluid (CSF) levels of fibrinogen, which has been reported to be elevated in plasma patients MDD. Three fibrinogen-related proteins were measured using aptamer-based analyses and CSF samples 30 MDD controls. The numbers an excessively high level (>99 percentile controls) was significantly increased (17 23%)....
The Japanese archipelago is a terminal location for human migration, and the contemporary people represent unique population whose genomic diversity has been shaped by multiple migrations from Eurasia. We analyzed characteristics that define genetic makeup of modern genetics perspective data 9,287 samples obtained high-coverage whole-genome sequencing (WGS) National Center Biobank Network. dataset comprised populations Ryukyu Islands other parts (Hondo). Hondo underwent two episodes decline...
Amino acids play key roles in the function of central nervous system, and their alterations are implicated psychiatric disorders. In search for a biomarker major depressive disorder (MDD), we used high-performance liquid chromatography to measure amino related molecules cerebrospinal fluid (CSF) 52 patients with MDD (42 depressed 10 remitted; DSM-IV) 54 matched controls. Significant differences were found four acid concentrations between After Bonferroni correction, only ethanolamine (EA)...
Cerebrospinal fluid (CSF) is virtually the only one accessible source of proteins derived from central nervous system (CNS) living humans and possibly reflects pathophysiology a variety neuropsychiatric diseases. However, little known regarding genetic basis variation in protein levels human CSF. We examined CSF 1,126 133 subjects performed genome-wide association analysis 514,227 single nucleotide polymorphisms (SNPs) to detect quantitative trait loci (pQTLs). To be conservative, Spearman's...
Abstract To examine the role of neuroplasticity in pathology psychiatric disorders, we measured cerebrospinal fluid (CSF) neuroplasticity-associated protein levels. Participants were 94 patients with schizophrenia, 68 bipolar disorder (BD), 104 major depressive (MDD), and 118 healthy controls, matched for age, sex, ethnicity (Japanese). A multiplex immunoassay (22-plex assay) was performed to measure CSF Among 22 proteins, 11 successfully assay. amyloid precursor (APP) glial cell-derived...
Aim: Accumulating evidence suggests that neural inflammation plays an important role in psychiatric disorders. We aimed to identify inflammatory cytokines involved the pathophysiology of such disorders by quantifying them cerebrospinal fluid (CSF) samples from a large sample patients with major and healthy controls. Methods: The subjects included 94 schizophrenia, 68 bipolar disorder, 104 depressive 118 controls, matched for age, sex, ethnicity (Japanese). Lumbar puncture was performed...
Lipidomics provides an overview of lipid profiles in biological systems. Although blood is commonly used for profiling, cerebrospinal fluid (CSF) more suitable exploring homeostasis brain diseases. However, whether individual’s background affects the CSF profile remains unclear, and association between plasma heathy individuals has not yet been defined. Herein, lipidomics approaches were employed to analyze samples obtained from 114 healthy Japanese subjects. Results showed that global...
Abstract Multiple system atrophy (MSA) is a neurodegenerative disorder characterized by various combinations of autonomic failure, parkinsonism, and cerebellar ataxia. To elucidate variants associated with MSA, we have been conducting short-read-based whole-genome sequence analysis. In the process association studies, initially focused on GBA1 , previously proposed susceptibility gene for to evaluate whether can be efficiently identified despite its extraordinarily high homology pseudogene,...
Aim Ethanolamine‐containing phospholipids are synthesized in endoplasmic reticulum (ER) and mitochondria. ER stress mitochondrial dysfunction have been implicated bipolar disorder (BP). In this study, we aimed to examine the relationship of ethanolamine plasmalogen (PLE) phosphatidylethanolamine (PTE) levels blood plasma with BP. Methods Plasma PLE PTE were compared between 34 patients BP (DSM‐IV) 38 healthy control participants matched for age, sex, ethnicity (Japanese). Furthermore,...
It is crucial to pinpoint the metabolites that cause Crohn's disease (CD) and ulcerative colitis (UC) comprehend their pathogenesis identify possible targets for therapy. To achieve this goal, we performed first metabolome-wide Mendelian randomization (MR) study of Japanese patients with CD UC.
Abstract Aim The ε4 allele of apolipoprotein E gene (APOE) is a well‐known risk factor late‐onset Alzheimer's disease. However, little known why this variant confers for aim study was to examine the influence APOE genotype on cerebrospinal fluid (CSF) protein levels. Methods present performed secondary analysis our previously generated database compare CSF levels 1128 proteins between APOE‐ε4 carriers (28 subjects) and noncarriers (104 subjects). All subjects were physically healthy Japanese...
Abstract The Japanese archipelago is a terminal location for human migration, and the contemporary people represent unique population whose genomic diversity has been shaped by multiple migrations from Eurasia. Through high-coverage whole-genome sequencing (WGS) analysis of 9,850 samples National Center Biobank Network, we analyzed characteristics that define genetic makeup modern genetics perspective. dataset comprised populations Ryukyu Islands other parts (Hondo). Low frequency...
This study aimed to determine if the discrepancy between depression severity rated by clinicians and that reported patients depends on key behavioral/psychological features in with mood disorders.Participants included 100 disorders. First, we examined correlations regressions scores Hamilton Depression Rating Scale (HAMD) Beck Inventory (BDI). Second, divided participants into those who provided 1) greater ratings for BDI compared HAMD (BDI relative- overrating, BO) group, 2) comparable...
We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p.L1166F) known FLNC variant. Our results highlight usefulness WGS, even diagnosis well-characterized genetic diseases such as WD.
71groups, only KYN correlated with SERT in the midbrain HC (ρ=-0.544,p=0.001).A further analysis showed that, at TBI > 0.06, TRP (ρ=-0.900,p=0.037),KYN (ρ=-0.900,p=0.037), and (ρ=0.900,p=0.037) HC.However, this could not be replicated MDD. Conclusion:Our results are first to demonstrate complicated interactions between metabolism different brain regions.The significance of association HC, particular levels TBI, is warrant for study.