The mitochondria organelles are highly dynamic in a cell structure and are vital for functions such as energy production through oxidative phosphorylation (OXPHOS), calcium homeostasis, and the modulation of apoptosis cell death. Therefore, they are central to cell metabolism and signaling. Protheragen has tailored advanced solutions for services of biochemical diagnostics related to mitochondrial diseases to advance the study of mechanisms of mitochondrial diseases and drug development processes.
Fig.1 Metabolic pathways in mitochondrion. (Chi C. S., 2015)
Our Services
The use of current biochemicals is greatly useful in aiding the guidance of genetic diagnostic procedures for mitochondrial disorders. Protheragen is a company that provides various biochemical diagnostic services with particular interest in different aspects of these existing mitochondrial diseases. Below is a detailed summary of our primary services:
Energy Metabolism Analysis
Through measuring specific indicators of mitochondrial energy metabolism, the levels of intracellular ATP produced and mitochondrial respiratory chain activity can be ascertained. Which could reveal energy metabolism abnormalities which could assist in the diagnosis of mitochondrial diseases and aid in 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 determined the redox status by measuring enzyme activities related to redox reactions and monitoring the oxygen free radical’s formation, which helps in delineating some forms of mitochondrial dysfunctions.
| 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
Getting to know the activity levels of particular essential enzymes of interest helps us gain insight on the particular deficiencies that result from specific defects in the – pathways of mitochondria. It allows the accurate diagnosis of various types of mitochondrial diseases along with giving great assistance in the research of these conditions.
| 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
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
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.
