New insights into the neurodegenerative diseases related to mitochondrial DNA replication

Rafael Fernández Leiro

Spanish National Cancer Research Center (CNIO), Madrid, Spain

In addition to nuclear DNA, our cells contain a second genome within the mitochondria, the mitochondrial DNA, and its correct replication is crucial for human health. Alterations in this process lead to the development of severe neurodegenerative disorders such as mitochondrial encephalopathies, which are rare, or more prevalent diseases such as Alzheimer’s or Parkinson’s, as well as various types of cancer.

The primary cause of these alterations in mitochondrial DNA are errors that occur during its replication. Despite its importance to human health, this process is poorly understood. Gaining a better understanding of the mechanisms of mitochondrial DNA replication would therefore pave the way for understanding the effects caused by mutations and the processes that lead to the onset of disease.

Building on previous studies that have yielded promising results, in the current project the team will further study the mechanisms of mitochondrial DNA replication with the aim of offering new insights into how diseases related to these processes occur and how new therapies can be developed.

• Borja Ibarra Urruela, Instituto IMDEA Nanociencia, Madrid, Spain

• Cristina Ugalde Bilbao, Margarita Salas Center for Biological Research (CIB-CSIC), Madrid, Spain

Mito4Neuro: Integrative characterization of the mitochondrial DNA replisome in health and disease

€900,300.00