
Genetics and cell biology
Somatic Mutation Mechanisms

Exposure to exogenous and endogenous mutagens results in the daily accumulation of somatic mutations in every cell of the body. The consequent loss of genomic integrity is recognized as the leading force in malignant transformation. Despite this important role, our understanding of ongoing mutagenic processes in healthy tissues and cell types is limited.
Research Activity
Our research focuses on somatic mutagenesis in normal tissues, in particular, in pre-cancerous kidney cells. Through analysis of somatic cells taken from human kidneys as well as the use of mouse models, we are investigating molecular mechanisms that may lead to an excessive accumulation of somatic mutations. In particular, through a multidisciplinary approach that combines cellular biology and genomics, we are evaluating whether changes in cellular metabolism may promote mutagenesis and consequently act as a very early trigger of cellular transformation. In addition, we are exploring somatic mutagenesis in kidney samples from patients with inherited diseases that cause cancer predisposition and polycystic kidney disease. Results obtained by these studies are expected to provide a better understanding of kidney cancer initiation and possible strategies for prevention of kidney tumors and cysts in individuals at risk.
Somatic mutations acquired during life: state of the art and implications for the kidney
Margaria JP, Faienza S, Franco I
KIDNEY INTERNATIONAL, 2025
Genomics reveal unknown mutation-promoting agents at global sites
Franco I., Supek F.
NATURE, News and Views, 2024
Reverting to old theories of aging with new evidence for the role of somatic mutations
Franco I., Eriksson M.
NATURE REVIEW GENETICS, 2022
Challenges of proving a causal role of somatic mutations in the aging process
Franco I., Revechon G., Eriksson M.
AGING CELL, 2022
Margaria JP, Campa CC, De Santis MC, Hirsch E. and Franco I.
CELLULAR SIGNALLING, 2020
Franco I., Helgadottir H.T., …., Eriksson M.
GENOME BIOLOGY, 2019
Somatic mutagenesis in satellite cells associates with human skeletal muscle aging.
Franco I, Johansson A, …, Eriksson M.
NATURE COMMUNICATIONS, 2018