Syndromes

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Figure 1. Clinical presentations of mitochondrial diseases
(Gorman, 2016).

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:

• Chronic progressive external ophthalmoplegia (CPEO)
• Kearns-Sayre syndrome (KSS)
• Leber hereditary optic neuropathy (LHON)
• Mitochondrial DNA Depletion Syndrome (MDDS)
• Mitochondrial Encephalopathy Lactic Acidosis with Stroke-like Episodes (MELAS)

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.

Our Capabilities

Creative Biogene provides rapid mitochondrial function testing services, allowing clients to accurately analyze the relationship between disease and mitochondria.

Quotation and Ordering

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.

Reference

1. Gorman, G., Chinnery, P., DiMauro, S. et al. Mitochondrial diseases. Nat Rev Dis Primers 2, 16080 (2016).

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