Manifestations of mitochondrial diseases can be very different from each other and can occur at any age which adds to its complexity. This inherent diversity increases the difficulties in the diagnosis and management of these multifaceted disorders. With the services and platforms available through Protheragen, one can remain at the forefront of working towards the advancement in diagnostics for mitochondrial disease.
Introduction to Mitochondrial Diseases
Mitochondrial diseases encompass various disorders due to the dysfunction of mitochondria which is the underperformance of the organelle responsible for energy production in a cell. These disorders can appear in many organs and systems leading to a multitude of symptoms. Early and correct diagnosis is critical to effective management, prognosis, and therapy. The methods of diagnosing mitochondrial diseases are changing over time as they become more multidisciplinary to tackle the complexities of the disorders.
Our Services
Over the years there’s been considerable progress in technology and understanding of mitochondrial biology, however, accurately diagnosing mitochondrial disease remains a major hurdle, resulting in many cases remaining undiagnosed. Protheragen offers diagnostic devising services backed by multidisciplinary specialists by applying different technological platforms that specifically focus on the diagnosis and development of mitochondrial diseases.
Genetic Biomarkers Development Service
Pathogenetic mutations in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) sequences disrupt the respiratory chain and the synthesis of mitochondrial proteins. Understanding these mutations helps in the diagnosis and therapy of mitochondrial disorders.
Protein Biomarkers Development Service
Analysis of protein markers allows for a better determination of the types and levels of mitochondrial dysfunction in the individuals and consequently the type of therapy that would be suitable.
Enzyme Biomarkers Development Service
Specific enzyme defects are also seen in mitochondrial disorders relating to energy metabolism. These abnormalities give insights into the biochemical problem and form the basis of intervention strategies.
Diagnostic Kit Development Service
Mitochondrial diseases require a multi-faceted approach for their diagnosis, including inter alia, genetics, biochemistry imaging, and so on. The expansion of various diagnostic kits and methods will greatly aid in this endeavor, allowing more optimal and timelier, accurate diagnosis.
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Professional Team
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The creation of tools to identify and diagnose mitochondrial disorders can assist in the detection and accuracy of the disease which would allow for proper management and therapy. These tools will, in one way or another, focus on certain abnormal markers of mitochondrial activity in individual tissues or blood, thereby enabling healthcare practitioners to make more complete diagnoses of mitochondrial diseases. Protheragen specializes in providing high-quality services to promote scientific research in the field of mitochondria disorders. If you would like to get more details about the services you may contact us.
