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Diseases, Volume 8, Issue 1 (March 2020) – 4 articles

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Open AccessArticle
One Single Nucleotide Polymorphism of the TRPM2 Channel Gene Identified as a Risk Factor in Bipolar Disorder Associates with Autism Spectrum Disorder in a Japanese Population
Diseases 2020, 8(1), 4; https://doi.org/10.3390/diseases8010004 - 07 Feb 2020
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Abstract
The transient receptor potential melastatin 2 (TRPM2) is a non-specific cation channel, resulting in Ca2+ influx at warm temperatures from 34 °C to 47 °C, thus including the body temperature range in mammals. TRPM2 channels are activated by β-NAD+, ADP-ribose [...] Read more.
The transient receptor potential melastatin 2 (TRPM2) is a non-specific cation channel, resulting in Ca2+ influx at warm temperatures from 34 °C to 47 °C, thus including the body temperature range in mammals. TRPM2 channels are activated by β-NAD+, ADP-ribose (ADPR), cyclic ADPR, and 2′-deoxyadenosine 5′-diphosphoribose. It has been shown that TRPM2 cation channels and CD38, a type II or type III transmembrane protein with ADP-ribosyl cyclase activity, simultaneously play a role in heat-sensitive and NAD+ metabolite-dependent intracellular free Ca2+ concentration increases in hypothalamic oxytocinergic neurons. Subsequently, oxytocin (OT) is released to the brain. Impairment of OT release may induce social amnesia, one of the core symptoms of autism spectrum disorder (ASD). The risk of single nucleotide polymorphisms (SNPs) and variants of TRPM2 have been reported in bipolar disorder, but not in ASD. Therefore, it is reasonable to examine whether SNPs or haplotypes in TRPM2 are associated with ASD. Here, we report a case-control study with 147 ASD patients and 150 unselected volunteers at Kanazawa University Hospital in Japan. The sequence-specific primer-polymerase chain reaction method together with fluorescence correlation spectroscopy was applied. Of 14 SNPs examined, one SNP (rs933151) displayed a significant p-value (OR = 0.1798, 95% CI = 0.039, 0.83; Fisher’s exact test; p = 0.0196). The present research data suggest that rs93315, identified as a risk factor for bipolar disorder, is a possible association factor for ASD. Full article
(This article belongs to the Special Issue Biomarkers in Neuropsychiatric Disorders)
Open AccessEditorial
Acknowledgement to Reviewers of Diseases in 2019
Diseases 2020, 8(1), 3; https://doi.org/10.3390/diseases8010003 - 19 Jan 2020
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Abstract
The editorial team greatly appreciates the reviewers who have dedicated their considerable time and expertise to the journal’s rigorous editorial process over the past 12 months, regardless of whether the papers are finally published or not [...] Full article
Open AccessArticle
Genetic Analysis of Peroxisomal Genes Required for Longevity in a Yeast Model of Citrin Deficiency
Diseases 2020, 8(1), 2; https://doi.org/10.3390/diseases8010002 - 09 Jan 2020
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Abstract
Citrin is a liver-specific mitochondrial aspartate–glutamate carrier encoded by SLC25A13. Citrin deficiency caused by SLC25A13 mutation results in carbohydrate toxicity, citrullinemia type II, and fatty liver diseases, the mechanisms of some of which remain unknown. Citrin shows a functional homolog in yeast [...] Read more.
Citrin is a liver-specific mitochondrial aspartate–glutamate carrier encoded by SLC25A13. Citrin deficiency caused by SLC25A13 mutation results in carbohydrate toxicity, citrullinemia type II, and fatty liver diseases, the mechanisms of some of which remain unknown. Citrin shows a functional homolog in yeast aspartate-glutamate carrier (Agc1p) and agc1Δ yeasts are used as a model organism of citrin deficiency. Here, we found that agc1Δ yeasts decreased fat utilization, impaired NADH balance in peroxisomes, and decreased chronological lifespan. The activation of GPD1-mediated NAD+ regeneration in peroxisomes by GPD1 over-expression or activation of the malate–oxaloacetate NADH peroxisomal shuttle, by increasing flux in this NADH shuttle and over-expression of MDH3, resulted in lifespan extension of agc1Δ yeasts. In addition, over-expression of PEX34 restored longevity of agc1Δ yeasts as well as wild-type cells. The effect of PEX34-mediated longevity required the presence of the GPD1-mediated NADH peroxisomal shuttle, which was independent of the presence of the peroxisomal malate–oxaloacetate NADH shuttle and PEX34-induced peroxisome proliferation. These data confirm that impaired NAD+ regeneration in peroxisomes is a key defect in the yeast model of citrin deficiency, and enhancing peroxisome function or inducing NAD+ regeneration in peroxisomes is suggested for further study in patients’ hepatocytes. Full article
(This article belongs to the Section Rare Syndrome)
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Open AccessArticle
“I Actually Don’t Know What HIV Is”: A Mixed Methods Analysis of College Students’ HIV Literacy
Diseases 2020, 8(1), 1; https://doi.org/10.3390/diseases8010001 - 02 Jan 2020
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Abstract
Objective: Human immunodeficiency virus (HIV) remains a major public health issue with young adults facing a disproportionately higher rate of the burden. Our goal was to address the current literacy related to HIV, including biomedical prevention methods and barriers to care, such as [...] Read more.
Objective: Human immunodeficiency virus (HIV) remains a major public health issue with young adults facing a disproportionately higher rate of the burden. Our goal was to address the current literacy related to HIV, including biomedical prevention methods and barriers to care, such as cultural factors, from a sample of college students. Methods: We conducted a convergent parallel mixed methods analysis where both qualitative and quantitative data were collected and analyzed separately. A thematic analysis was conducted to assess qualitative results, while descriptive statistics were conducted to assess quantitative survey results. Results: HIV literacy was limited, with several participants reporting that they did not understand what HIV meant. While the majority knew the use of condoms, knowledge of other biomedical prevention methods was limited, as was the understanding the risk factors of HIV, with participants noting sharing a toilet seat and promiscuity as risk factors. Self-efficacy for HIV prevention was low among participants with many reporting that cultural barriers prevented discussion of risky behaviors and prevention methods in their families and social groups. Conclusion: Targeted, culturally sensitive, health education initiatives are needed to understand the high, low, or no risks of HIV as well as address stigmas related to HIV. Full article
(This article belongs to the Special Issue Infectious Disease Epidemiology)
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