In order to live, everyone needs fuel, which is made in small energy factories: mitochondria. These mitochondria are very important to keep cells healthy, thereby playing a big role in many diseases, from Parkinson’s to cancer. This research shows that “crowding” in mitochondria affects processes that take place herein. Next, it shows that the absence of the EMRE protein prevents calcium from entering mitochondria, possibly leading to reduced energy production, thereby causing muscle disease. Also, a compound was investigated which is often used as “medicine mailman” to the mitochondria. However, too high concentrations hereof disturb mitochondrial function, making this mailman probably unsuitable for this task. This thesis puts together part of the puzzle, which increases the understanding of mitochondrial function in health and disease. This insight is needed for the development of treatments for these diseases.
Elianne Bulthuis (1993) obtained her Masters in Biomolecular Sciences from the Vrije Universiteit Amsterdam in 2017. That year, she started a PhD project at the Biochemistry department at the Radboudumc. Currently, she is working as clinical academic staff member at the Human Genetics department of the Amsterdam UMC, where she will start the training for Laboratory Specialist Clinical Genetics in 2024.