Recent Advance on Relative Energy Deficiency in Female Athlete

PURPOSE The purpose of this review was to summarize the current knowledge on the trends in athletes’ health problems (and their preventive strategies) caused by low energy availability (LEA) and relative energy deficiency in sports (RED-S). METHODS In this narrative review, we summarized previous studies by searching the literature in the PubMed, Google Scholar, and Science Direct databases. RESULTS Energy availability (EA) refers to the amount of energy from caloric intake used for exercise, and a LEA is considered as a surrogate marker of RED-S. In several previous studies, chronic low energy availability in female athletes has been reported to cause health problems such as endocrine dysfunctions, immunosuppression, and psychological disorders, and to also affect the hypothalamic-pituitary-gonadal (HPC) axis and bone health. Moreover, it has been suggested that an increase in injury risk and a decrease in exercise performance may occur. CONCLUSIONS Since it can be difficult to recover from the health deteriorations caused by RED-S, early detection (of related signs and symptoms) and prevention are very important. Therefore, athletes, coaches, and parents need to develop educational programs that ease the recognition of the problems caused by various symptoms related to RED-S and promote educational interventions

Hornerin deposits in neuronal intranuclear inclusion disease : direct identification of proteins with compositionally biased regions in inclusions

Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder, characterized by the presence of eosinophilic inclusions (NIIs) within nuclei of central and peripheral nervous system cells. This study aims to identify the components of NIIs, which have been difficult to analyze directly due to their insolubility. In order to establish a method to directly identify the components of NIIs, we first analyzed the huntingtin inclusion-rich fraction obtained from the brains of Huntington disease model mice. Although the sequence with expanded polyglutamine could not be identified by liquid-chromatography mass spectrometry, amino acid analysis revealed that glutamine of the huntingtin inclusion-rich fraction increased significantly. This is compatible with the calculated amino acid content of the transgene product. Therefore, we applied this method to analyze the NIIs of diseased human brains, which may have proteins with compositionally biased regions, and identified a serine-rich protein called hornerin. Since the analyzed NII-rich fraction was also serine-rich, we suggested hornerin as a major component of the NIIs. A specific distribution of hornerin in NIID was also investigated by Matrix-assisted laser desorption/ionization imaging mass spectrometry and immunofluorescence. Finally, we confirmed a variant of hornerin by whole-exome sequencing and DNA sequencing. This study suggests that hornerin may be related to the pathological process of this NIID, and the direct analysis of NIIs, especially by amino acid analysis using the NII-rich fractions, would contribute to a deeper understanding of the disease pathogenesis.Peer reviewe

ハンチントンビョウ モデル マウス ノ チュウガタ ユウキョク シンケイ サイボウ ニオケル ノンコーディング RNA ノ ハツゲン ヘンカ

博士(理学)同志社大学Huntington Disease (HD) is a neurodegenerative disorder caused by expanded CAG repeats in the exon1 of huntingtin gene (HTT). The mutant HTT affects the transcriptional profile of neurons by disrupting the activities of transcriptional machinery and alters expression of many genes. In this study, we identified dysregulated non-coding RNAs (ncRNAs) in medium spiny neurons of 4-week-old HD model mouse. Also, we observed the intracellular localizations of Abhd11os and Neat1 ncRNAs by ViewRNA in situ hybridization, which could provide more precise detection, suggesting that it is a useful method to investigate the expression changes of genes with low expression levels