09:08pm Thursday 12 December 2019

Disturbed lipid balance in mitochondria can cause cardiomyopathy

Disturbed lipid balance in mitochondria can cause cardiomyopathyThis has been demonstrated by a study currently being conducted by scientists at the Helmholtz Zentrum München and the Technical University of Munich (TUM). Published in the latest edition of the American Journal of Human Genetics, it underlines the importance of lipid membranes for energy metabolism.

Disorders of lipid metabolism and the lipid membranes of mitochondria impair cellular energy generation and can cause cardiomyopathy, as Dr. Holger Prokisch of the Helmholtz Zentrum München and the Technical University of Munich discovered when – working in close cooperation with Dr. Hans Mayr of Salzburg University Hospital – he examined the genetics of Sengers syndrome*. The scientist had determined the complete sequence of all the 20,000 genes of a patient with Sengers syndrome from the University of Freiburg in order to decode the genetic cause of the disease.

Dr. Holger Prokisch, Institute for Human Genetics at the Helmholtz Zentrum München and the Technical University of Munich

“Our work not only describes a genetic cause of Sengers syndrome but also underlines the importance of the lipid balance. Disturbances have serious effects on the mitochondrion and the entire cell,“ Prokisch explains. The scientists will now determine the lipid components and their dynamics in the biological membranes more precisely in order to gain a better understanding of their role in energy metabolism. This could throw light on possible connections to other human diseases and provide starting points for new treatments.

Further information

* Mitochondria: cell organelles that provide energy in cells. Energy is generated within the inner lipid membranes of the mitochondria.
* Cardiomyopathy: disease of the heart muscle.
* Sengers syndrome: an autosomal recessive condition characterized by congenital cataracts, hypertrophic cardiomyopathy and lactic acidosis, generally without any involvement of the central nervous system. About 50 cases have been documented worldwide.

Original publication:
Mayr, J.A. et al. (2012). Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome, American Journal of Human Genetics, Online ahead of print

Link to publication

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 has about 1,900 staff members and is headquartered in Neuherberg in the north of Munich. It is a member of the Helmholtz Association, a community of 17 scientific-technical and medical-biological research centers with a total of about 31,000 staff members. www.helmholtz-muenchen.de

The Technical University of Munich (TUM) is one of the leading universities in Europe. It has roughly 460 professors, 7,500 academic and non-academic staff (including those at Rechts der Isar university teaching hospital)  and 25,000 students. It focuses on the engineering sciences, natural sciences, life sciences, medicine and economic sciences. After winning numerous awards, it was named as a Center of Excellence in 2006 by the Council of Science and Humanities, one of the leading science policy advisory bodies in Germany, and the DFG, the central, self-governing research-funding organization in Germany. TUM’s worldwide network also encompasses a research center in Singapore. TUM is committed to the idea of an entrepreneurial university. www.tum.de

Institute of Human Genetics at the Helmholtz Zentrum München and the Technical University of Munich: The Institute is concerned with identifying genes associated with disease and characterizing their functions. The main aim of the research projects is to develop disease-related genetic variation in humans and mice as well as to develop chromosome analysis techniques and new methods for dealing with specific issues in the sphere of pre- and post-natal diagnostics and tumor cytogenetics.

Contact for media representatives

Sven Winkler, Helmholtz Zentrum München – German Research Center for Environmental Health (GmbH), Ingolstädter Landstraße 1 85764 Neuherberg – Phone.: 089-3187-3946 – Fax: 089-3187-3324 – email: presse@helmholtz-muenchen.de

Scientific contact
Dr. Holger Prokisch, Institut für Humangenetik des Helmholtz Zentrums München und der Technischen Universität München, Ingolstädter Landstr. 1, 85764 Neuherberg, Phonel.: 089-3187-2890, Fax: 089-3187-3297, email: prokisch@helmholtz-muenchen.de

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