The interplay of mutations and electronic properties in disease-related genes

TL;DR

This study analyzes the electronic properties of DNA in disease-related genes, revealing differences in mutations that could aid in prediction and early diagnosis of genetic disorders.

Contribution

It provides the first large-scale analysis linking DNA electronic properties with mutation patterns in disease-related genes.

Findings

Significant difference in electronic properties between observed mutations and all possible mutations.

Implications for DNA's role in cellular processes and mutation hotspot prediction.

Potential for early diagnosis and mutation detection based on electronic properties.

Abstract

Electronic properties of DNA are believed to play a crucial role in many phenomena in living organisms, for example the location of DNA lesions by base excision repair (BER) glycosylases and the regulation of tumor-suppressor genes such as p53 by detection of oxidative damage. However, the reproducible measurement and modelling of charge migration through DNA molecules at the nanometer scale remains a challenging and controversial subject even after more than a decade of intense efforts. Here we show, by analysing 162 disease-related genes from a variety of medical databases with a total of almost 20,000 observed pathogenic mutations, a significant difference in the electronic properties of the population of observed mutations compared to the set of all possible mutations. Our results have implications for the role of the electronic properties of DNA in cellular processes, and hint at the possibility of prediction, early diagnosis and detection of mutation hotspots.