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New Marker Identified That May Predict Autoimmune Diseases

The incidence of autoimmune diseases such as type 1 diabetes and allergies is increasing throughout the world. Now an international team of scientists with the participation of Helmholtz Zentrum München has identified DNA hydroxymethylation as a potential molecular marker for autoimmunity.

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Gene expression at the level of epigenetics is regulated via DNA methylation. “Current studies show that DNA hydroxymethylation precedes DNA methylation and is thus a fundamental process of gene regulation,” said Dr. Stefanie Hauck, acting head of the Research Unit Protein Science, Helmholtz Zentrum München. Until now, studies of this mechanism were only carried out in a mouse model, and to what extent they are transferable to humans remained unclear.

New Marker for Autoimmune Diseases

Now an international team led by Dr. Colm Nestor and Professor Mikael Benson of the University of Linköping, Sweden, has shown that these mechanisms also play a role in human autoimmune diseases. Antonio Lentini, a doctoral student and co- first author of the study, carried out key experiments in the laboratory of Dr. Stefanie Hauck. In the genome-wide analysis of human DNA hydroxymethylation he was able to show that this DNA marker is associated with autoimmune diseases. “The hydroxymethylated DNA genome segments Lentini identified are also important for understanding how genes are regulated during human T cell differentiation,” said Hauck.

Dr. Helmut Laumen* of the Clinical Cooperation Group Nutrigenomics and Type 2 Diabetes mellitus assessed the results “as another milestone in the development of personalized diagnosis and treatment“. Based on the results of this study, the mechanisms of T cell development can be investigated further. Additionally, Laumen hopes to gain a deeper understanding of the molecular mechanisms underlying a genetic association in various autoimmune diseases.

Further Information

Original Publication

Nestor C.E. et al., 5-Hydroxymethylcytosine Remodeling Precedes Lineage Specification during Differentiation of Human CD4+ T Cells. Cell Reports 2016, DOI:, Abstract:

The Helmholtz Zentrum München, the German Research Center for Environmental Health, pursues the goal of developing personalized medical approaches for the prevention and therapy of major common diseases such as diabetes and lung diseases. To achieve this, it investigates the interaction of genetics, environmental factors and lifestyle. The Helmholtz Zentrum München is headquartered in Neuherberg in the north of Munich and has about 2,300 staff members. It is a member of the Helmholtz Association, a community of 18 scientific-technical and medical-biological research centers with a total of about 37,000 staff members. 

The independent Research Unit Protein Science (PROT) explores the composition of protein complexes and their integration into cellular processes and protein networks. One focus is on the analysis of the interaction between genetic variation and environmental factors in neurodegenerative and metabolic diseases. The aim is to identify biological systems and disease-related disorders at the systemic level and thus to contribute to the molecular understanding of disease.

The Clinical Cooperation Group Nutrigenomics and Type 2 Diabetes mellitus is a cooperation of Technische Universität München, the Else Kröner-Fresenius Centre for Nutritional Medicine and Helmholtz Zentrum München. By means of a translational research approach the CCG is seeking to elucidate the molecular mechanisms underlying the effects of single nucleotide polymorphisms (SNPs) and the interaction between diabetes risk-SNPs/nutrition/metabolism. Moreover, the CCG aims to identify novel diabetes biomarkers.

*currently EKFZ/TUM and PROT/HMGU