Sumary of Disease genes help developing brains:
- In addition to environmental pollutants and illness of the expectant mother, genetic factors can play a role — including mutations in the genes of the so-called Sonic Hedgehog (SHH) signaling pathway.
- This pathway controls the embryonic development of organs and the nervous system.
- “We wanted to know why the severity of this disease varies so much,” says Dr. Annette Hammes, head of the Molecular Pathways in Cortical Development Lab at the Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC).
- ” Disease genes restore the SHH pathway Researchers have long assumed that there are genes that positively influence this malformation or even prevent it altogether.
- The Hammes Lab team has now identified two new candidates: “ULK4 and PTTG1, also known as securin,” says co-lead author Dr. Nora Mecklenburg, who was a postdoctoral researcher with Hammes at the time of the study.
- In the journal “Development,” the scientists explain how these proteins can restore an impaired SHH pathway.
- Without LRP2, the SHH pathway is not sufficiently activated and malformations of the neural tube occur at a very early stage of pregnancy — often resulting in miscarriage.
- RNA analysis with high-throughput sequencing To do this, Mecklenburg first bred the different mouse strains and examined the animals with regard to their disease characteristics, signaling pathways and genetic makeup.