The KCNB2 gene and its role in neurodevelopmental disorders: Implications for genetics and therapeutic advances

IF 3.2 3区医学 Q2 MEDICAL LABORATORY TECHNOLOGY

Clinica Chimica Acta Pub Date : 2024-11-20 DOI:10.1016/j.cca.2024.120056

Zakaria Ahmed Mohamed , Jinghua Li , Jianping Wen , Feiyong Jia , Santasree Banerjee

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引用次数: 0

Abstract

Neurodevelopmental disorders (NDDs) are increasingly linked to genetic mutations that disrupt key neuronal processes. The KCNB2 gene encodes a crucial component of voltage-gated potassium channels, essential for regulating neuronal excitability and synaptic transmission. Mutations in KCNB2 typically alter potassium channel inactivation, leading to various NDDs, including autism spectrum disorders (ASD), intellectual disabilities (ID), and epilepsy. This narrative review synthesizes findings from genetic, molecular, and clinical studies on the KCNB2 gene and its role in NDDs. Relevant literature was identified through database searches in PubMed, Embase, PsycINFO, Scopus, and Web of Science, focusing on studies that examine KCNB2′s molecular mechanisms, pathogenic mutations, and clinical implications in NDDs. In addition to its role in excitability, KCNB2′s impact on cognitive processes, such as memory and attention, is considered, highlighting the need for further research. Potential interventions, including pharmacological modulation and gene therapy, are also discussed. Future research should focus on characterizing KCNB2 variants, expanding genetic screening, and advancing targeted therapies to improve outcomes for individuals affected by KCNB2-related disorders.

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KCNB2 基因及其在神经发育障碍中的作用：对遗传学和治疗进展的影响。

神经发育障碍（NDDs）越来越多地与破坏关键神经元过程的基因突变有关。KCNB2 基因编码电压门控钾通道的一个重要组成部分，它对调节神经元兴奋性和突触传递至关重要。KCNB2 基因突变通常会改变钾通道失活，从而导致各种 NDD，包括自闭症谱系障碍（ASD）、智力障碍（ID）和癫痫。本叙述性综述综合了有关 KCNB2 基因及其在 NDDs 中作用的遗传、分子和临床研究结果。相关文献是通过在 PubMed、Embase、PsycINFO、Scopus 和 Web of Science 等数据库中进行检索而确定的，重点研究 KCNB2 在 NDDs 中的分子机制、致病突变和临床影响。除了在兴奋性方面的作用外，研究还考虑了 KCNB2 对记忆和注意力等认知过程的影响，强调了进一步研究的必要性。此外还讨论了潜在的干预措施，包括药物调节和基因治疗。未来研究的重点应是确定 KCNB2 变体的特征、扩大基因筛查范围和推进靶向治疗，以改善受 KCNB2 相关疾病影响的个体的预后。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinica Chimica Acta 医学-医学实验技术

CiteScore

10.10

自引率

2.00%

发文量

1268

审稿时长

23 days

期刊介绍： The Official Journal of the International Federation of Clinical Chemistry and Laboratory Medicine (IFCC) Clinica Chimica Acta is a high-quality journal which publishes original Research Communications in the field of clinical chemistry and laboratory medicine, defined as the diagnostic application of chemistry, biochemistry, immunochemistry, biochemical aspects of hematology, toxicology, and molecular biology to the study of human disease in body fluids and cells. The objective of the journal is to publish novel information leading to a better understanding of biological mechanisms of human diseases, their prevention, diagnosis, and patient management. Reports of an applied clinical character are also welcome. Papers concerned with normal metabolic processes or with constituents of normal cells or body fluids, such as reports of experimental or clinical studies in animals, are only considered when they are clearly and directly relevant to human disease. Evaluation of commercial products have a low priority for publication, unless they are novel or represent a technological breakthrough. Studies dealing with effects of drugs and natural products and studies dealing with the redox status in various diseases are not within the journal''s scope. Development and evaluation of novel analytical methodologies where applicable to diagnostic clinical chemistry and laboratory medicine, including point-of-care testing, and topics on laboratory management and informatics will also be considered. Studies focused on emerging diagnostic technologies and (big) data analysis procedures including digitalization, mobile Health, and artificial Intelligence applied to Laboratory Medicine are also of interest.