دانلود رایگان مقاله پیشرفت های اخیر در ابزارهای تشخیصی در بیماری های متابولیسم انرژی میتوکندریال

ABSTRACT

The involvement of mitochondrial energy metabolism in human disease ranges from rare monogenic disease to common diseases and aging with a genetic and/or lifestyle/environmental cause. This wide ranging involvement is due to the central role played by mitochondrion in cellular metabolism, its role in cellular perception of threats and its role in effecting responses to these threats. Investigating mitochondrial function/dysfunction or mitochondria-associated cell-biological responses have thus become a common finding where the pathogenic processes are investigated. Although, such investigations are warranted, it is not always clear if mitochondria can indeed be associated with cause or merely playing a responsive role in disease pathology. As this key question is also essential to disease progression and therapy, it should be recognized in investigative design. We herewith, present an overview of the current approaches and technologies used and the practicalities around these technologies.

3. Conclusion and future outlook

Mitochondrial disorders are among one of the rapidly increasing diseases worldwide. Traditional diagnostic tools for mitochondria are often invasive, costly and in many cases are not properly diagnostic. However, advent of high throughput technology has revolutionized mitochondrial medicine providing less invasive and more classic diagnostic options for the evaluation of suspected mitochondrial patients. This method will broaden the testing availability to a wider range of patients leading to more accurate diagnosis and treatment of affected individuals.