Dr. Björn Fischer-Zirnsak (Berlin, Germany) : The Mitonchondrion and CL

The best known function of mithocondria is energy production (ATP synthesis) via the respiratory chain.

However, this organelle is also central in several metabolic processes like the tricarboxylic acid (TCA) cycle, the urea cycle and important for cellular stress response processes and programmed cell death.

This presentation will focus on the clinical differences between and within the single entities, discussed in relation to known and novel findings from cellular and animal models.

By this, an overview about the research on the mitochondria related cutis laxa disorders will be given.