Figure 1. Clinical presentations of mitochondrial diseases
What is commonly referred to as mitochondrial disease is a set of symptoms caused by mitochondrial dysfunction.
The pathophysiology of mitochondrial diseases is complex and involves genetic mutations in nuclear DNA (nDNA) and mitochondrial DNA (mtDNA).
Many individuals with a mtDNA disorder display a cluster of clinical features that fall into discrete clinical syndromes, also commonly thought of as "mitochondrial diseases", including:
See also Symptoms of Different Types of Mitochondrial Diseases
The symptoms encompassed by these syndromes are different, but the unifying feature is the mitochondrial dysfunction, especially the intervention and dysregulation of nuclear and mitochondrial genes. Of course, the resulting dysfunction of mitochondrial biochemistry and bioenergetics follows.
Creative Biogene works with you to validate and explore the pathogenesis of mitochondria-associated syndromes and possible interventions, with professional services and products to support your research.
Creative Biogene provides rapid mitochondrial function testing services, allowing clients to accurately analyze the relationship between disease and mitochondria.
Oxygen Consumption Rate (OCR) Measurement
Fluorescent Reporters of Mitochondrial pH
Mitochondrial Membrane Potential (MMP)
Fission and Fusion
If you have any special needs or questions regarding our services, please feel free to contact us. Creative Biogene looks forward to cooperating with you in the future.
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