MDC Lab Coats

Luft Lab

Genetics, Nephrology, Hypertension, and Vascular Injury

Profile

Our goal is to reduce cardiovascular morbidity and mortality. Hypertension is the most important risk factor. We investigate genetic, mechanistic, regulatory, and environmental influences.

Since 1994, we have pursued a Mendelian form of hypertension that cosegregates with brachydactyly type E (HTNB). We recently reported six missense mutations in PDE3A (encoding phosphodiesterase 3A) in six unrelated families with HTNB. The syndrome features brachydactyly type E (BDE), severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and death from stroke before age 50 years when untreated.

Team

Group leader

Prof. Dr. Friedrich C. Luft

+49 (0)30 450 540 002

   

     +49 (0)30 9406 - extension

Scientists

Dr. Sylvia Bähring

2505

 

Dr. Wolf-Hagen Schunck

3750

 

Dr. Philipp G. Maass

2503

 

Dr. Atakan Aydin

2514

 

Dr. Maolian Gong

3430

Graduate Students

Anne Konkel

2845

 

Max Blum

2845

 

Lisanne Schulze

2515

 

Nina Neujahr

2845

Technicians

Christel Andrée

3671

 

Eireen Bartels-Klein

2515

 

Irene Hollfinger

2535

 

Astrid Mühl

2515

 

Yvette Wefeld-Neuenfeld

2503

 

Ramona Zummach

2845

Research

The Department of Nephrology / Hypertension / Clinical Pharmacology, headed by Friedrich C. Luft, encompasses several research groups. The ultimate aim of our group is to reduce cardiovascular morbidity and mortality. Our main focus is hypertension - the most important risk factor, in cardiovascular disease - and we are approaching the theme through several projects. We are pursuing the molecular genetics of hypertension and brachydactyly, two phenotypes which are closely linked in a family we discovered over 15 years ago. Hypertension and the organ damage that ensue from it are tremendously challenging topics for research because they arise through an interaction between many genes and environmental factors. This project began as a classic search for a mutation in a gene and has led us to new insights into one of the most interesting current themes in science: the epigenetic regulation of the genome. While trying to explain the brachydactyly phenotype, we discovered a series of very complex cis- and trans-regulatory epigenetic phenomena; they may serve as a model system to explore important open questions about genome architecture and regulation.

A second focus of the group concerns the pathogenesis of hypertension and the organ damage that it ultimately leads to. We are actively investigating the cytochrome P450 (CYP) pathway of eicosanoid formation, which has only recently been shown to play a pivotal role in these processes. Our studies of the mechanisms of CYP-eicosanoid action suggest a novel line of therapeutic strategies that might help prevent cardiac arrhythmias and acute kidney injury.

Finally, our group is collaborating on elucidating salt-related mechanisms causing hypertension; here we are using a novel magnetic resonance technique to measure body sodium stores.

Projects:

  • Genetics and epigenetics in human disease

  • Cardiovascular function of CYP-eicosanoids

  • Salt-related mechanisms of hypertension

Publications

Prof. Friedrich Luft
Prof. Dr. Friedrich Luft