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Research for patients with Wilson’s disease

Professor Hans Zischka has been awarded the Lydia Kaulfuss Prize by the Wilson’s Disease e.V.. Zischka and his team will receive a grant of 20,000 euros for their research into better treatment options for the copper storage disease.

From left: Prof. Dr. med. rer. nat. Hans Zischka, Helmholtz Center Munich, Prof. Dr. med. Dr. rer. nat. Harald Hefter, Department of Neurology, University Hospital Dusseldorf, Prof. Dr. med. Karl Heinz Weiss, Department of Internal Medicine IV, University Hospital Heidelberg and the Chairman of the Wilson e.V. Dr. Wiebke Papenthin. © Benedikt Reuter

Zischka accepted the award on Saturday at the Doctor-Patient Symposium of the Wilson’s Disease e.V. last week. “Dealing with patients who have Wilson’s disease is a tremendous motivation and a driving force of our work,” the scientist says. His research group, which is based at the Institute of Molecular Toxicology and Pharmacology of Helmholtz Zentrum München and the Institute of Toxicology and Environmental Hygiene of the Technical University of Munich, is looking for new approaches to the treatment of Wilson’s disease, a genetic condition in which copper metabolism is disturbed. The liver of Wilson’s disease patients is unable to excrete excess copper into the bile. This leads to massive copper accumulation and damage to the liver and brain during the course of the disease.

Specifically, Zischka’s group found that excess copper in mitochondria leads to the progressive death of liver cells. The researchers have developed a treatment approach based on the bacterial molecule methanobactin. This substance removes copper from mitochondria, thus restoring the function of the cell organelles. Copper is normally excreted via the bile, whereas the chelating agents currently used to treat the disease cause the copper to be excreted primarily into the bloodstream. “We are focusing our efforts on introducing the substance class of methanobactin into the clinical setting,” he explains.

He and his group also hope that their promising new treatment approach will improve or prevent the neurological damage observed in about half of Wilson’s disease patients. Often, the neurological complications are exacerbated by convention treatments with copper chelators.

“We know relatively very little about the underlying mechanisms of Wilson’s disease and the harmful effects it has on the brain. It’s like a black hole,” Zischka says. “We’ve therefore begun to focus on the neurological effects of copper.” In a recently published paper, the team found that the mitochondria of neurons in particular are sensitive to copper (Borchard et al., Tox in vitro 2018, 51:11−22). If excess copper enters the brain via the bloodstream, its harmful effect is at least comparable to that in the liver.

Zischka’s team now plans to focus on the development of neurological disorders in the course of the copper storage disease. With the funding from the Lydia Kaulfuss Prize, the researchers will investigate the role of the blood-brain barrier in the development of neurological damage and hope to make a contribution towards improving the situation of Wilson’s disease patients.

The award conferred by the Wilson’s Disease e.V. was set up in honor of the patient Lydia Kaulfuss, who succumbed to massive neurological damage at the age of 19 – just 18 months after the onset of the disease. Founded by her family, the Lydia Kaulfuss Trust supports patients, hospitals and medical projects involved in the study of Wilson’s disease, and works closely with the Wilson’s Disease e.V..

Further information

Wilson’s disease
Wilson’s disease, also called copper storage disease, is a serious autosomal recessive hereditary disease that affects copper metabolism. In Wilson’s disease, mutations of the hepatic copper transporter ATP7B result in progressive copper-induced damage to the liver and brain, which if left untreated can lead to severe neurological damage and death from liver or kidney failure.

The Wilson’s Disease e.V. provides information, advice and assistance to patients, their families and interested parties:

The Lydia Kaulfuss Trust acquires donated funds to support Wilson’s disease patients and to promote medical and scientific projects:

As German Research Center for Environmental Health, Helmholtz Zentrum München pursues the goal of developing personalized medical approaches for the prevention and therapy of major common diseases such as diabetes mellitus, allergies and lung diseases. To achieve this, it investigates the interaction of genetics, environmental factors and lifestyle. The Helmholtz Zentrum München has about 2,500 staff members and is headquartered in Neuherberg in the north of Munich. Helmholtz Zentrum München is a member of the Helmholtz Association, a community of 19 scientific-technical and medical-biological research centers with a total of about 37,000 staff members. 

The work of the Institute of Molecular Toxicology and Pharmacology (TOXI) focuses on elucidating the fundamental reactions of biological systems to chemical substances. The aim is to improve our understanding of the significance of such mechanisms and to gain new insights into signal networks and genetic programs responsible for the development and progression of complex diseases, such as cancer, diabetes, neurodegenerative diseases and cardiovascular disorders. Its findings form the basis for the development of improved strategies for identifying, quantifying and reducing health risks. In addition, the research promotes research into the prevention and early detection of environmental diseases and the development of innovative therapeutic approaches.