Markku Heikinheimo

Developmental diseases and pediatric tumors – from mechanisms to novel therapies

Markku Heikinheimo
HUS, Lasten ja nuorten sairaudet

Professor Markku Heikinheimo’s research group and its collaboration network study several developmental and endocrinological diseases and cancers. They are interested in the gene regulation, particularly in GATA transcription factors essential in the development and function of a multitude of organs.

The group is currently searching for insights into two pediatric liver diseases, biliary atresia and hepatoblastoma. The group also studies gonadal diseases, such as ovarian and testicular diseases, infertility, and germ cell tumours.

Heikinheimo’s group studies the pathogenesis of these diseases and searches for new follow-up markers as well as new therapeutic tools using translational approaches. Gene regulation, which is the key interest of the group, plays an important role during cell growth and development.

– We are particularly interested in factors regulating gene expression, i.e. proteins called transcription factors. These include GATA proteins, and we attempt to shed more light on their interactive networks as well as target genes, Professor Heikinheimo explains.

Towards new therapies to treat severe diseases

Studies use animal models, cell cultures, and comprehensive patient samples as well as clinical data. The initial objective is to have a more profound understanding of the pathophysiology of diseases and to improve their diagnostics and monitoring. In the future, the goal is to develop new therapies for these rare diseases.

In earlier work, the group has examined the role of GATA factors in development of adrenal glands, digestive tract and gonads as well as in several developmental disorders and cancers.

For example, Heikinheimo’s group has shown that the GATA6 protein is involved in the pathological differentiation of hepatic cells in biliary atresia. Biliary atresia is a severe congenital developmental disorder of the extrahepatic bile ducts of the liver.

Next, the group will study this phenomenon with an animal model using mice. In another project, the changes in gene expression in biliary atresia patients will be studied more extensively.

– We will also examine three cancers. In hepatoblastoma, we have elucidated the role of GATA proteins in programmed cell death and in the epithelial-mesenchymal transition. In an ongoing study on ovarian granulosa tumours we clarify the hormonal dependence, mechanisms of metastases and tendency to recur, Heikinheimo says.

In collaboration with researchers at the Washington University in St. Louis, the gene regulation of pediatric germ cell tumours has also been examined.

Extensive cooperation network as the strength of the research group

The research group established by Markku Heikinheimo in the mid-1990s has already included 20 doctoral candidates. In the current group consisting of approximately ten people, some members have the basic physician’s training, and some are biologists. The group includes experienced postdoctoral researchers as well as doctoral students and undergraduate students.

The physicians in the group are specialising or have completed their training to become paediatricians, gynecologists, laboratory physicians, neurologists, oncologists and radiologists.

One of the group’s strengths lies in its close collaboration with other specialities such as physiology, pathology, gynecology, and pediatric surgery, with researchers from the various faculties of the University of Helsinki, Finnish and foreign universities as well as research institutes.

– Since the establishment of our group, our most important partner has been the research group of Professor David B. Wilson at Washington University in St. Louis. Many of our researchers have either visited St. Louis or worked there for longer periods of time while preparing their dissertations.

Contact details

Markku Heikinheimo
Helsinki University Hospital Children and Adolescents


Links to studies
TUHAT research portal