The mitochondria are highly dynamic subcellular organelles that play a pivotal role in numerous essential cellular functions, including energy production through oxidative phosphorylation (OXPHOS), maintenance of calcium homeostasis, and regulation of apoptotic cell death. As such, they occupy a central position in cellular metabolism and signaling. Protheragen is dedicated to delivering state-of-the-art solutions for the biochemical diagnostic services associated with mitochondrial diseases to advance the investigation of mitochondrial diseases' mechanisms and facilitate drug development in this field.
Fig.1 Metabolic pathways in mitochondrion. (Chi C. S., 2015)
Our Services
The support provided by available biochemicals remains indispensable in guiding genetic diagnostic protocols for mitochondrial disease. Protheragen offers a wide range of biochemical diagnostic services, addressing different facets of current mitochondrial diseases. The following is a comprehensive outline of our primary services:
Energy Metabolism Analysis
By quantifying key markers of mitochondrial energy metabolism, we can assess intracellular ATP production and evaluate the functionality of the mitochondrial respiratory chain. This approach could unveil abnormalities in energy metabolism associated with mitochondrial diseases and provide valuable targets for therapeutic research.
| Test |
Tissue |
Indication |
|---|
| Lactate |
Blood, CSF |
Useful if elevated but may be normal |
| Pyruvate /lactate ratio |
Blood, CSF |
Increased PDH deficiency |
| Glucose |
Blood, CSF |
Hypoglycaemia is a feature of some PMDs and diabetes of others |
| Amino acids |
Blood, CSF |
Alanine, glycine, and proline may be increased and citrulline and arginine decreased in PMD |
| Creatine and related metabolites |
Blood, Urine |
Differential diagnosis of complex multisystem disease; may be secondary creatine deficiency in PMD |
| Blood gas, bicarbonate |
Blood |
To determine whether there is an acid-base disturbance |
Redox Status Detection
Maintaining a proper redox state within mitochondria is crucial for sustaining normal function. We assessed the redox status by analyzing enzyme activity related to redox reactions and monitoring the generation of oxygen free radicals, which aids in identifying various types of mitochondrial dysfunction.
| Test |
Tissue |
Indication |
|---|
| Respiratory chain enzyme assays |
Muscle |
To determine which complex(es) is/are deficient |
| Lysosomal enzymes |
WBC |
Differential diagnosis of complex multisystem disease |
Enzyme Activity Determination
Determining the activity levels of pivotal enzymes helps us comprehend specific aberrations within mitochondrial metabolic pathways accurately. This not only facilitates precise diagnosis of different forms of mitochondrial diseases but also provides substantial support for ongoing research on these disorders.
| Test |
Tissue |
Indication |
|---|
| Thymidine phosphorylase assay |
Platelets |
If clinical suspicion of MNGIE |
| Coenzyme Q10 |
WBC, Muscle |
Disorder of coenzyme Q10 biosynthesis |
Other Tests
In addition to the aforementioned services, we also provide a range of other testing services aimed at facilitating the diagnosis of various mitochondrial diseases.
| Test |
Tissue |
Indication |
|---|
| GDF15, FGF21 |
Blood |
Considered biomarkers of PMD, useful if elevated but may be normal |
| Transferrin electrophoresis |
Blood |
Differential diagnosis of complex multisystem disease |
| Very long-chain fatty acids |
Blood |
Differential diagnosis of complex multisystem disease |
| Neurotransmitters |
CSF |
If movement disorder |
| 5-methyltetrahydrofolate |
CSF |
May be low, particularly in KSS |
| PDH assay |
Fibroblasts |
If clinical suspicion of PDH deficiency |
Our Advantages
- Highly Precise Measurement
We employ advanced biochemical techniques to ensure utmost precision in our results, enabling researchers to obtain a dependable diagnosis of mitochondrial disease within the shortest possible timeframe.
- Extensive Range of Test Items
We provide a diverse array of biochemical tests encompassing various facets of mitochondrial disease, thereby offering comprehensive information on mitochondrial function for research purposes.
- Expert Team Support
Our team comprises seasoned biochemistry professionals who are adept at delivering personalized services tailored to meet distinct research requirements.
The innovative methodology Protheragen employs delves into emerging biomarkers, showcasing our unwavering dedication to remain at the forefront of mitochondrial disease research. Should you have any interest in our services, please do not hesitate to contact us for further elaboration.
Reference
- Chi C. S. (2015). Diagnostic approach in infants and children with mitochondrial diseases. Pediatrics and neonatology, 56(1), 7-18.
