Fighting Mitochondrial Diseases

By Jessica Alvarez

Fighting Mitochondrial Diseases

By Jessica Alvarez
Postdoctoral Associate in neurology Alba Timon-Gomez shares her research on mitochondrial disease

Within the Neurology Research Building (NRB ), at the Miller School of Medicine, we find Alba Timon-Gomez advancing knowledge in mitochondrial diseases, specifically mitochondrial encephalomyopathy, which is one of the most common types of metabolic diseases presenting in childhood. Alba states that the mitochondrial respiratory chain is essential for aerobic energy metabolism and is composed of two electron carriers and four multimeric complex enzymes. Alba then gathers data to create a proposed model of how these enzymes co-exist in hopes of closing gaps of knowledge in the mitochondrial assembly.

Alba and her fellow researchers have characterized the role of HIGD1A and HIGD2A (factors that are activated in response to decreased oxygen availability in the cellular environment) in the assembly and organization of the mitochondrial respiratory chain under normal oxygen level conditions. For these findings, they applied innovative approaches using gene-editing technologies like TALEN-based approaches. TALEN or Transcription activator-like effector nucleases are restriction enzymes that can be engineered to cut specific parts of DNA.

When asked what she enjoys most about her research, Alba responded, “I am really enjoying using basic research to understand the molecular mechanisms that lead to mitochondrial diseases.” Her long-term goal is to identify the critical regulatory pathways that operate during respiratory chain biogenesis.