Induced pluripotent stem cells offer great therapeutic potential and are a valuable tool for understanding how different diseases develop. New research shows that such stem cell lines should be regularly screened for genetic mutations to ensure the accuracy of the disease models.

In the past 10 years, scientists have learned to create induced pluripotent stem cells (iPSC) from ordinary cells by genetic reprogramming. These cells are widely used to study diseases, as they can be differentiated to almost any cell type of the body, and they can be generated from any individual. However, a key remaining methodological challenge is that the differentiation process is subject to major technical variation for mostly unknown reasons.

HiLIFE Tenure Track Professor Helena Kilpinen and her group at the University of Helsinki use stem cells for studying the biological mechanisms of neurodevelopmental and other brain-related diseases.

Hailey-Hailey disease is a rare, inherited condition characterized by patches of blisters appearing mainly in the skin folds of the arm pits, groin and under the breasts. It is caused by a mutation in the gene that codes for a specific protein involved in the transportation of calcium and manganese ions from the cell cytoplasm and into a sac-like organelle called the Golgi apparatus.

Scientists at Tohoku University, together with colleagues in Japan, have uncovered some aspects of this protein’s structure that could help researchers understand how it works. The findings, published in the journal Science Advances, help build the foundations for research into finding treatments for Hailey-Hailey disease and other neurodegenerative conditions.

The protein the team studied is called secretory pathway Ca²⁺/Mn²⁺-ATPase, or SPCA for short. It is located in the Golgi apparatus, a cellular sac-like structure that plays a crucial role in protein quality control before they are released into cells. The Golgi apparatus also acts like a sort of calcium ion storage container. Calcium ions are vital for cell signaling processes and are important for proteins to function properly, so maintaining the right calcium ion balance inside cells is necessary for their day-to-day activities.

Researchers at Texas A&M University have developed the first molecular therapeutic for Angelman syndrome to advance into clinical development.

In a new article, published today in Science Translational Medicine, Dr. Scott Dindot, an associate professor and EDGES Fellow in the Texas A&M School of Veterinary Medicine and Biomedical Sciences’ (VMBS) Department of Veterinary Pathobiology, and his team share the process through which they developed this novel therapeutic candidate, also known as 4.4.PS.L, or GTX-102. Dindot is also the executive director of molecular genetics at Ultragenyx, which is leading the development of GTX-102.

Angelman syndrome (AS) is a devastating, rare neurogenetic disorder that affects approximately 1 in 15,000 live births per year; the disorder is triggered by a loss of function of the maternal UBE3A gene in the brain, causing developmental delay, absent speech, movement or balance disorder, and seizures.