Fabry disease is a lysosomal disorder caused by deficiency of lysosomal glycohydrolase α-galactosidase A. This deficiency results in an accumulation of glycosphinogolipids in the cells of various organs throughout the body. Enzyme replacement therapy (ERT) using recombinant human α-galactosidase A has been developed, and used clinically for more than 10 years, and it has been shown to improve the prognosis of the patients with Fabry disease. Recently, pharmacological chaperone therapy has been developed as a new treatment for Fabry disease, creating two treatment options, and we have to select the appropriate treatment for each patient with Fabry disease. Recent reports have revealed that early initiation before development of irreversible organ failure was particularly effective for Fabry disease. Diagnosis at the early stage of the disorder and early initiation of ERT alleviate the symptoms and prevent later complications. Fabry disease needs to be widely recognized to improve patients’ outcomes.
The loss of muscle activity of the jaw muscle, one of the antigravity muscles, is a characteristic of REM sleep. REM muscle atonia involves GABAergic and glycine-mediated spinal motoneurons, as well as the dorsolateral part of the pons and medial part of the medulla oblongata. In contrast, REM without sleep atonia (RWA), which is a loss of muscle atonia during REM sleep, is a characteristic finding of REM sleep behavior disorder (RBD), in which vivid or action-filled dreams during REM sleep are acted out. Idiopathic or isolated RBD that occurs after middle age is considered to be a highly specific prodromal marker of synucleinopathies, such as Parkinson’s disease. In addition, there are studies suggesting a prodromal stage of RBD, such as isolated RWA and REM sleep behavioral events. Patients with narcolepsy show excessive daytime sleepiness and cataplexy, suggesting instability in wakefulness and REM sleep regulation. RBD is also present in 30-60% of patients with narcolepsy. In this article, the relationship between RWA, RBD and neurological diseases will be discussed.
During sleep, respiration is mainly controlled through feedback by chemoreceptors. OSA (obstructive sleep apnea) is a prevalent sleep disorder in which apnea and hypopnea occur frequently during sleep and result in an increase of the risk of lifestyle-related disease development. We have developed OSA screening methods through machine learning.
More than 20 years have passed since the identification of leptin, an anorexic hormone secreted from white adipose tissue. Since an abnormal condition in the appetite control system progresses to metabolic syndromes such as obesity, diabetes and hypertension, elucidating the actions of appetite-related hormones may contribute to their prevention. It has been indicated that autonomic actions induced by leptin are implicated in the control of appetite and metabolism, and the efferent sympathetic branches of brown adipose tissue, the liver, and kidney contribute to the regulation of thermogenesis, glucose metabolism, and cardiovascular function, respectively. Here, we mainly describe the action of leptin on the autonomic nerves, and additionally explain the central mechanism of leptin action and the afferent pathway from the peripheral organs.
Cisplatin is known to have side effects such as nausea and vomiting and may cause a stress response. In this study, we investigated the effects of peripheral administration of cisplatin on the hypothalamo-pituitary-adrenal (HPA) axis and autonomic nervous system, using arginine vasopressin (AVP)-eGFP transgenic rats. Cisplatin administration caused significant increases of AVP-eGFP fluorescent intensities and the number of AVP-eGFP expressing cells with FosB-ir in the parvocellular division of the paraventricular nucleus (pPVN). In addition, AVP, eGFP and CRH mRNA in the pPVN were also increased significantly after cisplatin administration. Although increased plasma concentrations of catecholamine could not be captured, corticosterone in plasma were increased significantly after cisplatin administration. These results suggest that peripheral administration of cisplatin may activate the HPA axis via hypothalamic AVP and CRH.