NDUFV1

Description

The NDUFV1 gene provides instructions for making a protein called NADH dehydrogenase (ubiquinone) flavoprotein 1, an essential component of Complex I, the first protein complex in the electron transport chain. This chain is vital for cellular respiration, the process that converts nutrients into energy, which powers all cellular functions. Mutations in the NDUFV1 gene can disrupt Complex I function, leading to a reduction in cellular energy production. This deficiency can affect various tissues and organs, resulting in a range of clinical manifestations. Understanding the role of NDUFV1 and its associated disorders is crucial for developing effective diagnostic and therapeutic approaches.

Associated Diseases

• Leigh Syndrome
• Mitochondrial Complex I Deficiency
• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
• Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
• Kearns-Sayre Syndrome
• Chronic Progressive External Ophthalmoplegia (CPEO)

Did you know?

Mutations in the NDUFV1 gene are particularly prevalent in individuals with Leigh Syndrome, a rare neurodegenerative disorder characterized by progressive neurological decline.