Mitochondrial diseases present unique challenges in the diagnosis and therapy processes. Enzymes are critical to the proper functioning of a mitochondrion, and their disorganization can be a sign of a disease. Protheragen was invented to solve these problems by providing tools and services for the detection, development, and characterization of mitochondrially associated enzymes for mitochondrial diseases.
Common Enzyme Biomarkers for Mitochondrial Diseases
Mitochondrial disorders entail anomalies in a diverse range of enzymes that are crucial for maintaining normal mitochondrial function and energy metabolism.
| Enzyme |
Function |
Diseases |
|---|
| NADH dehydrogenase (Complex I) |
The electrons from NADH are transferred to the mitochondrial respiratory chain, driving the proton pump and establishing a gradient of protons. |
Leber's Hereditary Optic Neuropathy (LHON)，Mitochondrial Encephalopathy with Lactic Acidosis and Stroke-like Episodes (MELAS) |
| ATP Synthase |
The proton gradient is utilized to generate ATP through the process of phosphorylation. |
NARP syndrome (Neuropathy, Ataxia, and Retinitis Pigmentosa), Leigh syndrome |
| Thymidine Kinase 2 |
The enzyme plays a crucial role in the synthesis of mitochondrial DNA and is associated with the replication and maintenance of mitochondrial DNA. |
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome (MNGIE) |
| DNA Polymerase Gamma |
The individual is engaged in the processes of mitochondrial DNA replication and repair. |
Alpers syndrome |
| Pyruvate Dehydrogenase Complex |
The process of pyruvate oxidation includes an important step which includes the transformation of pyruvate into acetyl-CoA. Pyruvate is produced by the glycolysis process in the cytoplasm and is further transported into the mitochondria. |
Pyruvate Dehydrogenase Complex Deficiency |
| Ketone Dehydrogenase Complex |
The enzyme is significant in fatty acid metabolism because it catalyzes the conversion of ketoacid to acetyl-CoA and takes part in energy metabolism in the mitochondria. |
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) |
Our Services
Mitochondrial diseases describe a complex of disorders affecting mitochondrial physiology as a whole. Mitochondria’s ability to produce energy for the body’s needs directly affects the proper functioning of essential body organs. Protheragen specializes in custom enzyme biomarker development services related to mitochondrial diseases, meeting clients' individual needs that include but are not limited to the following.
Oxidative Phosphorylation (OXPHOS)
- OXPHOS Enzymes
- Superoxide Dismutase (SOD)
DNA Maintenance and Repair
- DNA Nucleases
- DNA Polymerases
Metabolism
- Fatty Acid Oxidation (FAO) Enzymes
- Mitochondrial Proteases (SOD)
- Glycerol-3-Phosphate
Our Advantages
Reliable Data and Results
Mitochondrial diseases are caused by an absence or a malfunctioning enzyme, which further leads to disturbance in the function of mitochondria which appears as a spectrum of symptoms. Concerning different mitochondrial disorders, the nature of the enzyme defect and its role is complex. Protheragen aims to deliver exceptional and tailored scientific research services to assist the development of research on mitochondrial disorders. If you are interested in our services, please contact us for more detailed information.
