通过研究癌症基因中的体细胞突变,我们对癌症中的酸碱转运体有什么了解?

IF 2.9 4区 医学 Q2 PHYSIOLOGY
Bobby White, Pawel Swietach
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引用次数: 0

摘要

酸中毒是肿瘤微环境的一种化学特征,它挑战细胞内pH稳态。溶质连接载体(SLC)家族的酸碱转运体的协调活性对于去除发酵代谢的最终产物(乳酸/H+)和维持有利的碱性细胞质至关重要。考虑到pH稳态在激活细胞活动中的关键作用,相关SLC基因的突变可能会影响致癌过程,以负选择或正选择的形式出现,或作为驱动或乘客突变出现。为了解决这个问题,我们对酸/碱基转运SLCs (ABT-SLCs)的癌症基因组图谱简单核苷酸变异数据进行了泛癌症分析。单羧酸转运体(mct)的体细胞突变模式与它们在促进乳酸/H+外排中的重要性一致。在所有癌症中,子宫肌体子宫内膜癌的ABT-SLC体细胞突变比中位肿瘤突变负荷预期的要多。其中,SLC4A3的体细胞突变具有与细胞适应性有意义的结果相一致的特征。ABT-SLCs作为“癌症必需基因”或“驱动基因”的明确证据必须考虑基因组测序中的微环境背景,因为批量方法对肿瘤内的pH异质性不敏感。此外,基因组分析必须通过表型结果(即slc携带的通量)进行验证,以了解靶向癌症中酸碱转运的机会。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

What can we learn about acid-base transporters in cancer from studying somatic mutations in their genes?

What can we learn about acid-base transporters in cancer from studying somatic mutations in their genes?

Acidosis is a chemical signature of the tumour microenvironment that challenges intracellular pH homeostasis. The orchestrated activity of acid-base transporters of the solute-linked carrier (SLC) family is critical for removing the end-products of fermentative metabolism (lactate/H+) and maintaining a favourably alkaline cytoplasm. Given the critical role of pH homeostasis in enabling cellular activities, mutations in relevant SLC genes may impact the oncogenic process, emerging as negatively or positively selected, or as driver or passenger mutations. To address this, we performed a pan-cancer analysis of The Cancer Genome Atlas simple nucleotide variation data for acid/base-transporting SLCs (ABT-SLCs). Somatic mutation patterns of monocarboxylate transporters (MCTs) were consistent with their proposed essentiality in facilitating lactate/H+ efflux. Among all cancers, tumours of uterine corpus endometrial cancer carried more ABT-SLC somatic mutations than expected from median tumour mutation burden. Among these, somatic mutations in SLC4A3 had features consistent with meaningful consequences on cellular fitness. Definitive evidence for ABT-SLCs as 'cancer essential' or 'driver genes' will have to consider microenvironmental context in genomic sequencing because bulk approaches are insensitive to pH heterogeneity within tumours. Moreover, genomic analyses must be validated with phenotypic outcomes (i.e. SLC-carried flux) to appreciate the opportunities for targeting acid-base transport in cancers.

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来源期刊
CiteScore
8.80
自引率
2.20%
发文量
121
审稿时长
4-8 weeks
期刊介绍: Pflügers Archiv European Journal of Physiology publishes those results of original research that are seen as advancing the physiological sciences, especially those providing mechanistic insights into physiological functions at the molecular and cellular level, and clearly conveying a physiological message. Submissions are encouraged that deal with the evaluation of molecular and cellular mechanisms of disease, ideally resulting in translational research. Purely descriptive papers covering applied physiology or clinical papers will be excluded. Papers on methodological topics will be considered if they contribute to the development of novel tools for further investigation of (patho)physiological mechanisms.
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