Major Research Interests are :
Primary biochemical defects in inherited neuromuscular diseases, clinical trials in muscular Disorders.Mitochondrial biomarkers are scanty and might be needed in clinical trials to prove drug efficacy.
Dear Dr. Corrado Angelini
Circulating cell-free mtDNA (cf-mtDNA) or its fragments in plasma as a reliable marker for muscular disorders in clinical trials is under investigation. Given the role of mitochondria in muscle cells and the potential for mitochondrial dysfunction in muscular disorders, cf-mtDNA is being explored as a potential marker to monitor disease progression or treatment response in these conditions. However, a major challenge in using cf-mtDNA as a biomarker is the lack of standardized methods for its quantification, leading to inconsistencies. The mechanisms by which cf-mtDNA is released into the bloodstream are not fully understood.
Mitochondrial DNA Copy Number (mtDNA-CN), the number of mitochondrial DNA copies per cell, a proxy for mitochondrial health is being investigated as a potential biomarker because it can reflect the health and function of mitochondria. Changes in mtDNA-CN can indicate disease progression, treatment response, or even serve as a diagnostic tool.
For instance, in muscular dystrophies, where muscle fibers progressively degenerate, mtDNA-CN changes may reflect the severity of mitochondrial involvement. Patients with mitochondrial myopathies, often carrying specific mtDNA mutations, may show milder disease phenotypes when mtDNA-CN is moderately high.
Measuring mtDNA-CN in muscle biopsies or even blood samples could be a valuable tool for diagnosing these disorders and tracking disease progression. The mtDNA-CN holds promise as a biomarker for muscular disorders. But more research is needed to fully understand the dynamics of mtDNA-CN in muscular disorders and its potential as a reliable biomarker.
Regards,
Malcolm Nobre
Dea Dr Malcom Nobre,
There are mitochondrial disorders of nuclear or mitochondrial origin with different genotype, inheritance pattern.Mitochondrial DNA copy number (mtDNA-CN) is an excellent biomarker and levels of mtDNA-CN have been reproducibly associated with overall mortality and a number of age-related diseases, including cardiovascular disease, chronic kidney disease, and cancer.It has to be validated and compared with two cytokinesis .
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