Mitochondrial Disease Diagnostics Service

The symptoms of mitochondrial diseases are extremely varied and can affect virtually any organ system and manifest at any age. Such conditions are diagnosed through a convoluted process that requires an expert level of knowledge and advanced genetic examinations. Protheragen's mitochondrial disease diagnostics service is at the forefront of elucidating these complex genetic puzzles, providing extensive preclinical diagnostic and therapeutic development support.

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 is observed in Leigh syndrome, epilepsia partialis continua, occipital stroke-like episodes, non-vascular distribution strokes, axonal sensorimotor neuropathy, myoclonus, ataxia, epilepsy, movement disorders, and developmental retardation.
• Ophthalmologic Manifestations
  In mitochondrial disorders, progressive external ophthalmoplegia (PEO), ptosis, retinal pigmentary dystrophy, and optic atrophy are commonly observed in ophthalmic manifestations.
• 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 common form of heart manifestation is hypertrophic cardiomyopathy, which affects about 40% of these individuals. Less frequent is the occurrence of dilated cardiomyopathy. In addition, arrhythmias like Wolff-Parkinson-White syndrome, as well as ventricular pre-excitation, are commonly seen.
• Gastrointestinal Manifestations
  Gastrointestinal symptoms referred to as may include gastrointestinal dysmotility, swallowing difficulties, gastroesophageal reflux disease, delayed gastric emptying, constipation, pseudoobstruction, vomiting, failure to thrive, some forms of malabsorption syndrome, and exocrine pancreatic insufficiency. Involvement of the liver may present as hepatic steatosis and depletion of mitochondrial DNA.
• Endocrine Manifestations
  Diabetes mellitus remains one of the most common endocrine disorders that affects a individual's health. Adrenal dysfunction, hypoparathyroidism, thyroid impairment, growth retardation, obesity, and other endocrine disorders are quite common. There may also be instances of hypogonadism, infertility, and early ovarian insufficiency. The primary mitochondrial disease is often linked to weakened skeletal health.
• Renal Manifestations
  In a study conducted on individuals suffering from primary mitochondrial failure, renal involvement was noted in a sizeable proportion of subjects, which is up to 25 %. Renal manifestations include tubular affection like renal tubular acidosis, hypercalciuria, and hypouricemia, as well as glomerular damage that is evidenced by proteinuria, aminoaciduria and reduced GFR.

Our Services

Using the facilities of our company, state of the art laboratory, the service for the diagnosis of mitochondrial diseases offers well-coordinated and thorough services which are carefully checked for quality assurance. These services involve several of 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 research service provider, we are at the forefront of mitochondrial disease research, actively contributing to advancements in diagnostics and therapeutic strategies.

The team at Protheragen is committed to improving the field of diagnostics concerning mitochondrial diseases. The singular focus to achieve precision in diagnosis which drives Protheragen's efforts to solve problems related to mitochondrial diseases is unparalleled. Contact us today and find out how our mitochondrial diagnostics service can help augment your research efforts.