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Deficiencies of Behavioral or Phenotypes Characteristics Based on Environments, Genetics, Disease and Another Factors

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A special issue of Biology (ISSN 2079-7737). This special issue belongs to the section "Biochemistry and Molecular Biology".

Deadline for manuscript submissions: closed (31 March 2022) | Viewed by 30272

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Dr. Tomoyoshi Komiyama

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Department of Clinical Pharmacology, Tokai University School of Medicine, Isehara 259-1193, Kanagawa, Japan
Interests: diagnosis; prognostic factor; clinical genetics; neuroscience; molecular pharmacology; gene mutation; drug resistance; mitochondrial DNA; polymorphism; heteroplasmy; nucleotide differentiation index; cell signaling; catecholamine receptors; gene expression; evolution; molecular phylogeny; domestication; phenotype
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Special Issue Information

Dear Colleagues,

The scope of this Special Issue comprehensively encapsulates a wide range of fields, such as medical diagnosis, evolution, phylogeny, taxonomy, ecology, behavioral science, genetics, molecular biology, pharmacology, and anthropology. In addition, the Special Issue aims to incorporate cutting-edge technologies in life science, reflecting the trend to consistently develop the research approach in this field by drawing on diverse perspectives and an in-depth understanding of the research problem. This approach to research will be reflected in the subsequent results, which combine a series of studies on behavioral characteristics, character (phenotype) developments, gene function., etc.

The Special Issue will focus on developing a full understanding of research motivations and questions and will draw on the behavioral characteristics of living organisms and any different experimental data from biology to enhance the analysis of relationships based on many biological methods.

Dr. Tomoyoshi Komiyama
Guest Editor

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Keywords

behavior
diagnosis factor
disease
genetics
neuroscience
pharmacology
evolution
phenotype
adaptation

Related Special Issue

Deficiencies of Phenotype Characteristics Based on Environments, Genetics, Disease and Other Factors in Biology (5 articles)

Published Papers (10 papers)

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Research

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16 pages, 732 KiB

Open AccessArticle

Improving the Accuracy of Diagnosis for Multiple-System Atrophy Using Deep Learning-Based Method

by Yasuhiro Kanatani, Yoko Sato, Shota Nemoto, Manabu Ichikawa and Osamu Onodera

Biology 2022, 11(7), 951; https://0-doi-org.brum.beds.ac.uk/10.3390/biology11070951 - 22 Jun 2022

Cited by 1 | Viewed by 2409

Abstract

Multiple-system atrophy (MSA) is primarily an autonomic disorder with parkinsonism or cerebellar ataxia. Clinical diagnosis of MSA at an early stage is challenging because the symptoms change over the course of the disease. Recently, various artificial intelligence-based programs have been developed to improve the diagnostic accuracy of neurodegenerative diseases, but most are limited to the evaluation of diagnostic imaging. In this study, we examined the validity of diagnosis of MSA using a pointwise linear model (deep learning-based method). The goal of the study was to identify features associated with disease differentiation that were found to be important in deep learning. A total of 3377 registered MSA cases from FY2004 to FY2008 were used to train the model. The diagnostic probabilities of SND (striatonigral degeneration), SDS (Shy-Drager syndrome), and OPCA (olivopontocerebellar atrophy) were estimated to be 0.852 ± 0.107, 0.650 ± 0.235, and 0.858 ± 0.270, respectively. In the pointwise linear model used to identify and visualize features involved in individual subtypes, autonomic dysfunction was found to be a more prominent component of SDS compared to SND and OPCA. Similarly, respiratory failure was identified as a characteristic of SDS, dysphagia was identified as a characteristic of SND, and brain-stem atrophy was identified as a characteristic of OPCA. Full article

(This article belongs to the Special Issue Deficiencies of Behavioral or Phenotypes Characteristics Based on Environments, Genetics, Disease and Another Factors)

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16 pages, 1801 KiB

Open AccessArticle

Free d-Amino Acids in Salivary Gland in Rat

by Masanobu Yoshikawa, Takugi Kan, Kosuke Shirose, Mariko Watanabe, Mitsumasa Matsuda, Kenji Ito and Mitsuru Kawaguchi

Biology 2022, 11(3), 390; https://0-doi-org.brum.beds.ac.uk/10.3390/biology11030390 - 02 Mar 2022

Cited by 3 | Viewed by 2741

Abstract

Free d-amino acids, which are enantiomers of l-amino acids, are found in mammals, including humans, and play an important role in a range of physiological functions in the central nervous system and peripheral tissues. Several d-amino acids have been observed in saliva, but their origin and the enzymes involved in their metabolism and catabolism remain to be clarified. In the present study, large amounts of d-aspartic acid and small amounts of d-serine and d-alanine were detected in all three major salivary glands in rat. No other d-enantiomers were detected. Protein expression of d-amino acid oxidase and d-aspartate oxidase, the enzymes responsible for the oxidative deamination of neutral and dicarboxylic d-amino acids, respectively, were detected in all three types of salivary gland. Furthermore, protein expression of the d-serine metabolic enzyme, serine racemase, in parotid glands amounted to approximately 40% of that observed in the cerebral cortex. The N-methyl-d-aspartic acid subunit proteins NR1 and NR2D were detected in all three major salivary glands. The results of the present study suggest that d-amino acids play a physiological role in a range of endocrine and exocrine function in salivary glands. Full article

(This article belongs to the Special Issue Deficiencies of Behavioral or Phenotypes Characteristics Based on Environments, Genetics, Disease and Another Factors)

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18 pages, 3565 KiB

Open AccessArticle

Transplantation of Fibroblast Sheets with Blood Mononuclear Cell Culture Exerts Cardioprotective Effects by Enhancing Anti-Inflammation and Vasculogenic Potential in Rat Experimental Autoimmune Myocarditis Model

by Kaori Sekine, Akira T. Kawaguchi, Masaki Miyazawa, Haruo Hanawa, Shinichi Matsuda, Tetsuro Tamaki, Takayuki Asahara and Haruchika Masuda

Biology 2022, 11(1), 106; https://0-doi-org.brum.beds.ac.uk/10.3390/biology11010106 - 10 Jan 2022

Cited by 2 | Viewed by 2264

Abstract

Fulminant myocarditis causes impaired cardiac function, leading to poor prognosis and heart failure. Cell sheet engineering is an effective therapeutic option for improving cardiac function. Naïve blood mononuclear cells (MNCs) have been previously shown to enhance the quality and quantity of cellular fractions (QQMNCs) with anti-inflammatory and vasculogenic potential using the one culture system. Herein, we investigated whether autologous cell sheet transplant with QQMNCs improves cardiac function in a rat model with experimental autoimmune myocarditis (EAM). Fibroblast sheets (F-sheet), prepared from EAM rats, were co-cultured with or without QQMNCs (QQ+F sheet) on temperature-responsive dishes. QQ+F sheet induced higher expression of anti-inflammatory and vasculogenic genes (Vegf-b, Hgf, Il-10, and Mrc1/Cd206) than the F sheet. EAM rats were transplanted with either QQ+F sheet or F-sheet, and the left ventricular (LV) hemodynamic analysis was performed using cardiac catheterization. Among the three groups (QQ+F sheet, F-sheet, operation control), the QQ+F sheet transplant group showed alleviation of end-diastolic pressure–volume relationship on a volume load to the same level as that in the healthy group. Histological analysis revealed that QQ+F sheet transplantation promoted revascularization and mitigated fibrosis by limiting LV remodeling. Therefore, autologous QQMNC-modified F-sheets may be a beneficial therapeutic option for EAM. Full article

(This article belongs to the Special Issue Deficiencies of Behavioral or Phenotypes Characteristics Based on Environments, Genetics, Disease and Another Factors)

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11 pages, 907 KiB

Open AccessEditor’s ChoiceArticle

Clinical Significance of the Head-Up Tilt Test in Improving Prognosis in Patients with Possible Neurally Mediated Syncope

by Kengo Ayabe, Tomoyoshi Komiyama, Misaki Hasegawa, Tetsuri Sakai, Masahiro Morise, Susumu Sakama, Atsuhiko Yagishita, Mari Amino, Yuji Ikari and Koichiro Yoshioka

Biology 2021, 10(9), 919; https://0-doi-org.brum.beds.ac.uk/10.3390/biology10090919 - 15 Sep 2021

Cited by 4 | Viewed by 3138

Abstract

Syncope is commonly encountered in daily clinical practice. Depending on its etiology (benign or life-threatening conditions or environmental triggers), syncope can be neurally mediated (reflex), cardiac, or orthostatic. Furthermore, neurologic disease can cause symptoms that mimic syncope. However, there is limited research on neurally mediated syncope (NMS), which is considered a benign disorder, and close follow-ups are rarely performed. NMS can cause serious clinical events, including severe trauma and car accidents. The head-up tilt test (HUTT) is the gold standard for diagnosing NMS; however, its clinical significance remains unknown, and its relevance to NMS prognosis requires further research. This retrospective study aimed to assess the clinical significance of the HUTT for NMS. We reviewed the charts of 101 patients who underwent HUTT at Tokai University Hospital in Japan between January 2016 and March 2019. During the HUTT, 72 patients (69.2%) experienced syncope. Patients were followed up for 886.1 ± 457.7 days (interquartile range: 518–1293 days). The syncope recurrence rate was 16.9%; however, no significant difference was observed between the two groups (HUTT positive vs. negative) (13.8% vs. 18.1%, p = 0.772). Four of 29 (13.9%) and two of 72 (2.8%) patients in the negative and positive HUTT groups, respectively, experienced cardiac events (p = 0.019). Negative HUTT results may assist in anticipating unexpected clinical events within a few years. A negative HUTT result may allow us to reconsider the NMS diagnosis based on clinical information. Close outpatient follow-up of patients with negative HUTT results is warranted. Full article

(This article belongs to the Special Issue Deficiencies of Behavioral or Phenotypes Characteristics Based on Environments, Genetics, Disease and Another Factors)

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18 pages, 3706 KiB

Open AccessEditor’s ChoiceArticle

Drinking Molecular Hydrogen Water Is Beneficial to Cardiovascular Function in Diet-Induced Obesity Mice

by Haruchika Masuda, Atsuko Sato, Kumiko Miyata, Tomoko Shizuno, Akira Oyamada, Kazuo Ishiwata, Yoshihiro Nakagawa and Takayuki Asahara

Biology 2021, 10(5), 364; https://0-doi-org.brum.beds.ac.uk/10.3390/biology10050364 - 23 Apr 2021

Cited by 6 | Viewed by 4692

Abstract

Molecular hydrogen (MH) reportedly exerts therapeutic effects against inflammatory diseases as a suppressor of free radical chain reactions. Here, the cardiovascular protective effects of the intake of molecular hydrogen water (MHW) were investigated using high-fat diet-induced obesity (DIO) mice. MHW was prepared using supplier sticks and degassed water as control. MHW intake for 2 weeks did not improve blood sugar or body weight but decreased heart weight in DIO mice. Moreover, MHW intake improved cardiac hypertrophy, shortened the width of cardiomyocytes, dilated the capillaries and arterioles, activated myocardial eNOS-Ser-1177 phosphorylation, and restored left ventricular function in DIO mice. MHW intake promoted the histological conversion of hypertrophy to hyperplasia in white and brown adipose tissues (WAT and BAT) with the upregulation of thermogenic and cardiovascular protective genes in BAT (i.e., Ucp-1, Vegf-a, and eNos). Furthermore, the results of a colony formation assay of bone-marrow-derived endothelial progenitor cells (EPCs) indicated that MHW activated the expansion, differentiation, and mobilization of EPCs to maintain vascular homeostasis. These findings indicate that the intake of MHW exerts cardiovascular protective effects in DIO mice. Hence, drinking MHW is a potential prophylactic strategy against cardiovascular disorders in metabolic syndrome. Full article

(This article belongs to the Special Issue Deficiencies of Behavioral or Phenotypes Characteristics Based on Environments, Genetics, Disease and Another Factors)

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9 pages, 2050 KiB

Open AccessArticle

In Vivo Monitoring of Acetylcholine Release from Nerve Endings in Salivary Gland

by Masanobu Yoshikawa and Mitsuru Kawaguchi

Biology 2021, 10(5), 351; https://0-doi-org.brum.beds.ac.uk/10.3390/biology10050351 - 21 Apr 2021

Cited by 1 | Viewed by 3023

Abstract

A microdialysis technique was used to monitor acetylcholine levels in the local interstitial fluid in rat submandibular glands, with the aim of determining parasympathetic nerve activity in vivo. The dialysis probe housed a 10 × 0.22 mm semipermeable membrane (molecular weight cutoffs: 50,000 Da). When the probe was perfused at 2 μL/min in vitro, the mean relative recovery of acetylcholine was 41.7% ± 2.5%. The dialysis probes were implanted in the submandibular glands of anesthetized rats and perfusion with Ringer’s solution, at 2 μL/min, was performed. Acetylcholine concentrations in the dialysate were measured by high-performance liquid chromatography and electrochemical detection. The results revealed the following: (1) that mixing Eserine with Ringer’s solution allowed acetylcholine in the salivary glands to be quantified; (2) that acetylcholine concentrations in the dialysate were highly variable and unstable over the first 120 min after probe implantation, but reached a nearly stable level (4.8 ± 2.7 nM) thereafter in the presence of 100 µM of Eserine; and (3) that electrical stimulation of the chorda tympani nerve, or perfusion with high potassium Ringer’s solution, significantly increased acetylcholine concentrations in the dialysate. These results indicate that the present microdialysis technique offers a powerful tool for detecting changes in parasympathetic activity within the salivary glands. Full article

(This article belongs to the Special Issue Deficiencies of Behavioral or Phenotypes Characteristics Based on Environments, Genetics, Disease and Another Factors)

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9 pages, 752 KiB

Open AccessEditor’s ChoiceArticle

The Evolution of Molybdenum Dependent Nitrogenase in Cyanobacteria

by Tomoaki Watanabe and Tokumasa Horiike

Biology 2021, 10(4), 329; https://0-doi-org.brum.beds.ac.uk/10.3390/biology10040329 - 14 Apr 2021

Cited by 10 | Viewed by 3027

Abstract

Nitrogen fixation plays a crucial role in the nitrogen cycle by helping to convert nitrogen into a form usable by other organisms. Bacteria capable of fixing nitrogen are found in six phyla including Cyanobacteria. Molybdenum dependent nitrogenase (nif) genes are thought to share a single origin as they have homologs in various phyla. However, diazotrophic bacteria have a mosaic distribution within the cyanobacterial lineage. Therefore, the aim of this study was to determine the cause of this mosaic distribution. We identified nif gene operon structures in the genomes of 85 of the 179 cyanobacterial strains for which whole genome sequences were available. Four nif operons were conserved in each diazotroph Cyanobacterium, although there were some gene translocations and insertions. Phylogenetic inference of these genes did not reveal horizontal gene transfer from outside the phylum Cyanobacteria. These results support the hypothesis that the mosaic distribution of diazotrophic bacteria in the cyanobacterial lineage is the result of the independent loss of nif genes inherited from common cyanobacterial ancestors in each lineage. Full article

(This article belongs to the Special Issue Deficiencies of Behavioral or Phenotypes Characteristics Based on Environments, Genetics, Disease and Another Factors)

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Review

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12 pages, 600 KiB

Open AccessReview

Gender Differences in Takotsubo Syndrome

by Tsutomu Murakami, Tomoyoshi Komiyama, Hiroyuki Kobayashi and Yuji Ikari

Biology 2022, 11(5), 653; https://0-doi-org.brum.beds.ac.uk/10.3390/biology11050653 - 24 Apr 2022

Cited by 7 | Viewed by 2139

Abstract

Most patients with Takotsubo Syndrome (TTS) are postmenopausal females. TTS in males is rare and gender differences have not been sufficiently investigated. Therefore, we investigated gender differences in TTS. TTS in males and females is often triggered by physical and emotional stress, respectively. Heart failure, a severe in-hospital complication, requires greater mechanical respiratory support in males. Fatal arrhythmias such as ventricular tachycardia and ventricular fibrillation and in-hospital mortality rates are higher in males. The white blood cell (WBC) count has been shown to be higher in males than in females with cardiovascular death compared with non-cardiovascular death. Therefore, the WBC count, a simple marker, may reflect severe TTS. Decreased estrogen levels, common in postmenopausal females, are a pathogenic mechanism of TTS. Females have a more significant increase in the extracellular matrix-receptor interaction than males. Moreover, the pathological findings after hematoxylin–eosin staining were different in males and females. Males had more severe complications than females in the acute phase of TTS; thus, more careful observations and interventions are likely required. From these results, it can be considered that the mechanism of the onset of TTS may be different between males and females. Therefore, it is necessary to fully understand the gender differences in order to more effectively manage TTS. Full article

(This article belongs to the Special Issue Deficiencies of Behavioral or Phenotypes Characteristics Based on Environments, Genetics, Disease and Another Factors)

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12 pages, 639 KiB

Open AccessReview

Effect of Serial Passage on the Pathogenicity and Immunogenicity of Vaccinia Virus LC16m8 Strain

by Akiko Eto, Norio Yamamoto and Yasuhiro Kanatani

Biology 2021, 10(11), 1158; https://0-doi-org.brum.beds.ac.uk/10.3390/biology10111158 - 09 Nov 2021

Cited by 5 | Viewed by 3065

Abstract

The phenotype of an attenuated live vaccine depends on gene mutation achieved by, for example, many passages in cultured cells. Viral clones with preferable phenotypes are selected and the causative genetic mutation(s) are later identified. LC16m8 is an example of a highly attenuated smallpox vaccine that was developed and licensed in Japan in the 1970s. LC16m8 was obtained by the passaging of Lister strain, with indicators of small plaque formation and temperature sensitivity as virus phenotypes. This strain can replicate in mammalian cells and provides robust cellular and humoral immunity, as well as long-term immune memory. Recent studies using proteome-wide antigen arrays have revealed that antibody production against LC16m8 and other VACVs differs largely among individuals. Moreover, associations between SNPs in immune-related genes and immune outcomes have been increasingly found. These results lead to predicting adverse events of a vaccine, which is a purpose of vaccinomics. Studies on VACV will continue to contribute to the understanding of host-pathogen interactions and to development of a vaccine for other infectious and non-infectious diseases. Here, we review studies of VACV, including our recent research on LC16m8, with a focus on the phenotype and genotype, and we discuss future research directions. Full article

(This article belongs to the Special Issue Deficiencies of Behavioral or Phenotypes Characteristics Based on Environments, Genetics, Disease and Another Factors)

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Other

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12 pages, 782 KiB

Open AccessCase Report

RNA-seq and Mitochondrial DNA Analysis of Adrenal Gland Metastatic Tissue in a Patient with Renal Cell Carcinoma

by Tomoyoshi Komiyama, Hakushi Kim, Masayuki Tanaka, Sanae Isaki, Keiko Yokoyama, Akira Miyajima and Hiroyuki Kobayashi

Biology 2022, 11(4), 589; https://0-doi-org.brum.beds.ac.uk/10.3390/biology11040589 - 13 Apr 2022

Cited by 1 | Viewed by 1751 | Correction

Abstract

This study aimed to clarify whether genetic mutations participate in renal cell carcinoma (RCC) metastasis to the adrenal gland (AG). Our study analyzed whole mitochondrial gene and ribonucleic acid sequencing (RNA-seq) data from a male patient in his 60s with metastatic RCC. We confirmed common mutation sites in the mitochondrial gene and carried out Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis using RNA-seq data for RCC and adrenal carcinoma. Furthermore, we confirmed the common mutation sites of mitochondrial genes in which the T3394Y (p.H30Y) site transitioned from histidine (His.; H) to tyrosine (Tyr.; Y) in the NADH dehydrogenase subunit 1 (ND1) gene. The R11,807G (p.T350A) site transitioned from threonine (Thr.; T) to alanine (Ala.; A). Additionally, the G15,438R or A (p.G231D) site transitioned from glycine (Gly.; G) to aspartic acid (Asp.; D) in cytochrome b (CYTB). Furthermore, pathway analysis, using RNA-seq, confirmed the common mutant pathway between RCC and adrenal carcinoma as cytokine–cytokine receptor (CCR) interaction. Confirmation of the original mutation sites suggests that transfer to AG may be related to the CCR interaction. Thus, during metastasis to the AG, mitochondria DNA mutation may represent the initial origin of the metastasis, followed by the likely mutation of the nuclear genes. Full article

(This article belongs to the Special Issue Deficiencies of Behavioral or Phenotypes Characteristics Based on Environments, Genetics, Disease and Another Factors)

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