NDUFAF5

NDUFAF5 is a protein that in humans is encoded by the NDUFAF5 gene. The protein is a member of the Complex I Assembly (CIA) factors involved in the assembly of mitochondrial respiratory chain complex I. Mutations in this gene have been associated with Mitochondrial Complex I Deficiency, a disorder that causes a wide variety of clinical manifestations, including neonatal lactic acidosis, leukodystrophy, and cardiomyopathy.

Function

The NDUFAF5 protein is a chaperone protein that assists in the assembly of complex I of the mitochondrial respiratory chain. This complex, also known as NADH:ubiquinone oxidoreductase, is the first enzyme of the mitochondrial respiratory chain and is located in the inner mitochondrial membrane. It is responsible for transferring electrons from NADH to coenzyme Q10 (CoQ10) in the electron transport chain, a process that is essential for ATP synthesis.

Clinical significance

Mutations in the NDUFAF5 gene can cause mitochondrial complex I deficiency, a disorder that can affect many parts of the body, including the nervous system, heart, liver, and muscles. Symptoms can range from mild to severe and can appear anytime from birth to adulthood. The most common symptoms include muscle weakness, exercise intolerance, and lactic acidosis. In severe cases, the disorder can lead to leukodystrophy, a progressive degeneration of the white matter in the brain, and cardiomyopathy, a disease of the heart muscle.

Research

Research into the NDUFAF5 gene and its associated protein is ongoing. Understanding the role of this gene in the assembly of complex I and the pathogenesis of mitochondrial complex I deficiency may lead to new treatments for this and other mitochondrial disorders.

See also

• Mitochondrial disease
• Leigh syndrome
• Mitochondrial myopathy

References

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