Mitochondrial diseases present unique challenges in terms of diagnosis and treatment. Enzymes play a pivotal role in mitochondrial function, and their dysregulation can serve as an indicator of underlying disorders. Protheragen is specifically designed to address these challenges by offering advanced solutions for the identification, development, and characterization of enzymes associated with 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 conversion of pyruvate to acetyl-CoA is a crucial step in the oxidation process of pyruvate, which is produced by glycolysis and transported into mitochondria. |
Pyruvate Dehydrogenase Complex Deficiency |
| Ketone Dehydrogenase Complex |
The enzyme plays a crucial role in the metabolism of fatty acids by facilitating the conversion of ketoacid into acetyl-CoA and actively participating in mitochondrial energy metabolism. |
Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) |
Our Services
Mitochondrial diseases encompass a range of conditions that impact the functionality of mitochondria within the human body, which are responsible for cellular energy production. The compromised ability of mitochondria to generate sufficient energy required by the body directly influences the proper functioning of vital organs. Protheragen provides tailored enzyme biomarker development services for mitochondrial diseases, catering to our client's specific requirements, including but 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
The occurrence of mitochondrial diseases may be attributed to enzymatic defects or abnormalities, leading to impaired mitochondrial function and subsequently manifesting as a range of disease symptoms. The specific enzyme defect and its role can vary depending on the particular mitochondrial disorder. Protheragen is committed to providing customers with high-quality, specialized services to promote scientific research in the field of mitochondrial diseases. If you are interested in our services, please contact us for more detailed information.
