Alcorta Esther, Gomez-Diaz Carolina
NEUROSEN Group, Faculty of Medicine, Department of Functional Biology, Institute of Neurosciences of the Principality of Asturias (INEUROPA), University of Oviedo, c/Julian Claveria, 33006 Oviedo, Spain.
Int J Mol Sci. 2025 Jul 5;26(13):6484. doi: 10.3390/ijms26136484.
Multiple chemical sensitivity (MCS) is a disease of unknown etiology with multiple symptoms. Triggered by exposure to environmental chemicals, it results in multiorgan effects. Studies on MCS use different approaches, ranging from searches for environmental triggers to susceptibility genes. Genetic research deals with genes for chemical detoxification, oxidative stress, inflammation, and neurodegeneration, as well as immune function and mast cell activation, with uneven results. The sensory hyperexcitability symptom has not been studied yet but has recently been linked to a member of the gene superfamily. To explore its role in MCS disease, a complete-exome analysis was performed in a small number of subjects. Low-frequency genetic variants were analyzed for each individual, and their homozygous or heterozygous presence was determined in four groups of genes related either to the superfamily members or to previous studies in MCS. We found homozygous rare variants in affected individuals only for the gene superfamily, where each patient had at least one. Variants in heterozygosis and certain SNPs also point to genes related to neurotransmitter synthesis, release, and clearance, as well as to the level of cellular excitability, as potentially underlying the differences.
多重化学物质敏感症（MCS）是一种病因不明且症状多样的疾病。由接触环境化学物质引发，会导致多器官影响。对MCS的研究采用不同方法，从寻找环境触发因素到研究易感基因。基因研究涉及化学解毒、氧化应激、炎症、神经退行性变相关基因，以及免疫功能和肥大细胞活化相关基因，结果参差不齐。感觉过敏症状尚未得到研究，但最近已与一个基因超家族的成员联系起来。为了探究其在MCS疾病中的作用，对少数受试者进行了全外显子组分析。分析了每个个体的低频遗传变异，并在与该基因超家族成员或先前MCS研究相关的四组基因中确定其纯合或杂合存在情况。我们发现仅在该基因超家族中，受影响个体存在纯合罕见变异，每个患者至少有一个。杂合变异和某些单核苷酸多态性（SNP）也表明，与神经递质合成、释放和清除相关的基因，以及细胞兴奋性水平相关基因，可能是造成差异的潜在原因。
