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Genetic mechanisms of ageing - Maria Eriksson

Our research concerns the genetic mechanisms that contribute to age-related decline of tissues and the development of age-associated disease. We use modern genomic technologies to identify genetic variations, and conditional in vivo models to dissect the functional significance of the variants discovered.

Collage with a photo of people in lab. coats
From left to right: Group members Sharbari Das, undergraduate student, Daniel Whisenant, PhD student, and Gwladys Revêchon, Postdoc. Photo: Maria Eriksson

When we age, our tissues are characterised by a progressive loss of tissue function and regenerative capacity, which limits our physical performance and general health. The purpose of our research is to increase the knowledge about specific genetic and molecular factors that influence the onset of age-related diseases and affect health and disease. Advances in genomic technologies have made it possible to analyse somatic mutations in the whole genome of human cells and show that all cells accumulate mutations during development and ageing. This ongoing mutagenic process results in a tissue composed of cells with different genetic makeups, and is referred to as somatic mosaicism.

The specific aims include the development of a genetic atlas of somatic mutations across various cells of the human body. This atlas helps us to improve the current understanding of genetic events in cancer development and age-associated diseases, and to better comprehend the mutational processes that lead to differences in the somatic mutation landscape in different cells. Our results may also contribute to the development of therapies that could counteract the propagation of somatic mutagenesis, for example by the activation of DNA repair. Our most recent results indicate that the underlying mechanism responsible for age-related somatic mutagenesis, across most tissues, is the gradual loss of efficiency of DNA repair systems with ageing (Franco, Helgadottir et al., 2019).

Other projects in the lab include the study of the very rare premature ageing disorder Hutchinson-Gilford Progeria Syndrome (HGPS, progeria) and the development of novel treatment strategies. HGPS affects one in 18 million individuals and is caused by a de novo point mutation in the lamin A gene, LMNA c.1824C>T, leading to mis-splicing and production of a truncated lamin A protein named progerin. Children show typical symptoms of accelerated ageing and die in their teens due to accelerated atherosclerosis and cardiovascular disease. The underlying pathomechanisms remain unclear andclinical trials have shown only limited success.

The impact of our studies may be beneficial for ageing and promote healthy ageing,as well as encouraging the identification of novel treatments that alleviate age-associated diseases.

Colourful microscopy pictures of cells
Confocal microscopy pictures illustrating progerin expression in the skin and adipose tissue of a progeria model (left: progerin is specifically expressed in epidermal cells (red) as demonstrated by the basement membrane staining (white); middle: progerin is shown at the protein level by nuclear staining (pink) and at the transcript level by in situ hybridization (blue); right: adipocytes are illustrated by bodipy staining (green) and progerin by nuclear laminA/C staining (red)). Photos, from left to right: Agustin Sola Carvajal, Gwladys Revêchon and Tomas McKenna

Group members

Maria Eriksson

Group leader and Professor

Irene Franco

Postdoctoral researcher

Gwladys Revechon

Postdoctoral researcher

Daniel Whisenant

PhD student

Peter Vrtacnik

Postdoctoral researcher

Sharbari Das

Undergraduate student

Looking for a BSc or MSc project?

Undergraduate students (BSc, MSc in Molecular biology or similar) with an interest in molecular genetics and who find our research of interest may send an email to Maria Eriksson. We usually accept one undergraduate student per semester. Please include a CV and a letter of interest.

Selected Publications

  1. Franco I, Helgadottir HT, Moggio A, Larsson M, Vrtačnik P, Johansson A, Norgren N, Lundin P, Mas-Ponte D, Nordström J, Lundgren T, Stenvinkel P, Wennberg L, Supek F, Eriksson M. Whole genome DNA sequencing provides an atlas of somatic mutagenesis in healthy human cells and identifies a tumor-prone cell type. Genome Biology, 2019, 20:285. (IF: 14.028)
  2. Aguado J, Sola-Carvajal A, Cancila V, Revêchon G, Fern Ong P, Winston Jones-Weinert C, Wallén Arzt E, Dreesen O, Tripodo C, Rossiello F*, Eriksson M*, d’Adda di Fagagna F*. Inhibition of DNA damage response at telomeres improves the detrimental phenotypes of Hutchinson-Gilford Progeria Syndrome. Nature Communications, 2019, 10:4990. *co-last author (IF: 11.880)
  3. Narisu N, Rothwell R, Vrtačnik P, Rodríguez S, Didion J, Zöllner S, Erdos MR, Collins FS, Eriksson M. Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts. Aging Cell. 2019 Aug 5:e13010. (IF: 7.627)
  4. Helgadottir HT, Lundin P, Wallén Arzt E, Lindström AK, Graff C, Eriksson M. Somatic mutation that affects transcription factor binding upstream of CD55 in the temporal cortex of a late-onset Alzheimer disease patient. Hum Mol Genet. 2019 Aug 15;28(16):2675-2685. (IF: 5.985)
  5. Sola-Carvajal A, Revêchon G, Helgadottir HT, Whisenant D, Hagblom R, Döhla J, Katajisto P, Brodin D, Fagerström-Billai F, Viceconte N, Eriksson M. Accumulation of Progerin Affects the Symmetry of Cell Division and Is Associated with Impaired Wnt Signaling and the Mislocalization of Nuclear Envelope Proteins. J Invest Dermatol. 2019 May 23. pii: S0022-202X(19)31566-0. (IF: 6.448) #Article selected for journal cover.
  6. Osmanagic-Myers S, Kiss A, Manakanatas C, Hamza O, Sedlmayer F, Szabo PL, Fischer I, Fichtinger P, Podesser BK, Eriksson M, Foisner R. Endothelial progerin expression causes cardiovascular pathology through an impaired mechanoresponse. Journal of Clinical Investigation 2019; 129:531-545. (IF: 12.282)
  7. Franco I, Johansson A, Olsson K, Vrtačnik P, Lundin P, Helgadottir HT, Larsson M, Revêchon G, Bosia C, Pagnani A, Provero P, Gustafsson T, Fischer H, Eriksson M. Somatic mutagenesis in satellite cells associates with human skeletal muscle aging. Nature Communications 2018, 9:800. (IF: 11.880)
  8. Rodríguez SA, Grochová D, McKenna T, Borate B, Trivedi NS, Erdos MR, Eriksson M. Global genome splicing analysis reveals an increased number of alternatively spliced genes with aging. Aging Cell. 2016, 15:267-78. (IF: 7.627)
  9. McKenna T, Rosengardten Y, Viceconte N, Baek J-H, Grochová D, Eriksson M. Embryonic expression of the common progeroid lamin A splice mutation arrests postnatal skin development. Aging Cell. 2014, 13: 292-302. (IF: 7.627)
  10. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins C M, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, and Collins FS. Recurrent de novo Point Mutations in Lamin A Cause Hutchinson-Gilford Progeria Syndrome. Nature, 2003; 423: 293-298. (IF: 40.137)

Research Networks

  • European Joint program on Rare Diseases (EJPRD), coordinator 2020-2022
  • European Society of Human Genetics
  • American Society of Human Genetics

Prizes/Awards

  • 2018 Rönnberg's prize in aging and age-related diseases to Irene Franco
  • 2019 Jeansson’s foundation to Irene Franco