Mitochondrial Disease Diagnostics Service

The manifestations of mitochondrial disease are widely diverse, encompassing any organ system and occurring at any age. Diagnosing these conditions is a complex process that necessitates specialized expertise and advanced genetic testing. Protheragen' Mitochondrial Disease Diagnostics Service leads the way in unraveling these intricate genetic mysteries, offering comprehensive preclinical support on the path to accurate diagnosis and personalized treatment.

Mitochondrial Disease Overview

The spectrum of mitochondrial diseases encompasses a broad range of heritable conditions with highly variable age of onset throughout the lifespan, diverse clinical and biochemical manifestations, as well as molecular etiologies.

Fig. 1 Clinical presentations of mitochondrial diseases. (Gorman, G. S, et al., 2016)

• Neurologic Manifestations
  Manifestations indicative of a 'red flag' include Leigh syndrome, epilepsia partialis continua, occipital stroke-like episodes, non-vascular distribution strokes, axonal sensorimotor neuropathy, myoclonus, ataxia, seizures, movement disorders, and developmental regression.
• Ophthalmologic Manifestations
  The ophthalmic manifestations commonly observed in mitochondrial diseases encompass progressive external ophthalmoplegia (PEO), ptosis, pigmentary retinal dystrophy, and optic atrophy.
• Audiologic Manifestations
  Hearing loss in primary mitochondrial disease typically manifests as bilateral, high-frequency sensorineural impairment, varying in severity from mild to profound.
• Cardiac Manifestations
  The most prevalent cardiac manifestation is hypertrophic cardiomyopathy, which occurs in approximately 40% of affected individuals. Dilated cardiomyopathy, although less common, can also manifest. Additionally, arrhythmias such as Wolff-Parkinson-White syndrome and ventricular pre-excitation are frequently observed.
• Gastrointestinal Manifestations
  Gastrointestinal symptoms encompass dysmotility, dysphagia, gastroesophageal reflux disease (GERD), delayed gastric emptying, constipation, pseudoobstruction, vomiting, failure to thrive, malabsorption syndrome, and exocrine pancreatic insufficiency. Liver involvement may manifest as hepatic steatosis and mitochondrial DNA depletion.
• Endocrine Manifestations
  Diabetes mellitus is a prevalent endocrine manifestation commonly observed in individuals. Adrenal dysfunction, hypoparathyroidism, thyroid dysfunction, growth failure, and weight-related issues are frequently encountered. Additionally, there may be occurrences of hypogonadism, infertility, and premature ovarian failure. Primary mitochondrial disease is often associated with compromised bone health.
• Renal Manifestations
  Kidney involvement is observed in up to 25% of patients with primary mitochondrial disease. Renal manifestations may encompass tubular dysfunction (such as renal tubular acidosis, hypercalciuria, and hypouricemia) and/or glomerular dysfunction (including proteinuria, aminoaciduria, and decreased GFR).

Our Services

Through our purpose-built, state-of-the-art laboratory and cutting-edge facilities, the mitochondrial disease diagnostics service offers meticulously quality-assured and comprehensive services in the following areas.

Our Advantages

• Accuracy and Precision
  Our state-of-the-art genetic testing technologies ensure precise and accurate identification of mitochondrial DNA mutations.
• Comprehensive Support Services
  From initial testing to ongoing genetic counseling, we provide comprehensive support throughout the entire diagnostic journey.
• Pioneering Research Contributions
  As a leading Contract Research Organization (CRO), we are at the forefront of mitochondrial disease research, actively contributing to advancements in diagnostics and treatment strategies.

The team at Protheragen is dedicated to advancing the field of mitochondrial disease diagnostics. Our unwavering commitment to accuracy and innovation sets us apart in our relentless pursuit to unravel the complexities of mitochondrial diseases. Contact us today to discover how our mitochondrial disease diagnostics service can significantly impact your research endeavors.