معرفی
Dr. Mariana Rocha is a researcher affiliated with Newcastle University, specializing in mitochondrial DNA maintenance disorders and related pathologies. Her work spans medical genetics, biochemistry, and molecular biology, focusing on understanding mitochondrial dysfunction in diseases affecting muscle and metabolic systems.
Research Focus:
- Mitochondrial DNA mutations and deletions
- Oxidative phosphorylation mechanisms
- Single-fiber analysis of muscle pathology
- mtDNA maintenance in aging and disease
Recent publications highlight her contributions to mitochondrial disorder diagnostics, pulmonary arterial hypertension pathogenesis, and characterization of novel genetic variants like GMPR mutations and mtDNA m.7486G>A. Collaborations include multidisciplinary teams in neuroscience and pulmonology.
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