MT-ND2

Map of the human mitochondrial genome

MT-ND2

The MT-ND2 gene, also known as NADH dehydrogenase subunit 2, is a gene that encodes a subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I). This gene is located in the mitochondrial DNA (mtDNA) and plays a crucial role in the electron transport chain, which is essential for cellular respiration and energy production.

Structure

The MT-ND2 gene is composed of 1038 base pairs and is located on the heavy strand of the mitochondrial genome. It is one of the seven mitochondrial genes that encode subunits of Complex I, which is the largest enzyme complex in the mitochondrial respiratory chain.

Function

MT-ND2 encodes a subunit of Complex I that is involved in the transfer of electrons from NADH to the respiratory chain. This process generates a proton gradient across the inner mitochondrial membrane, which is used to produce ATP, the primary energy currency of the cell. Mutations in the MT-ND2 gene can lead to mitochondrial dysfunction and are associated with various mitochondrial disorders.

Clinical Significance

Mutations in the MT-ND2 gene have been linked to a range of mitochondrial diseases, including Leber's hereditary optic neuropathy (LHON) and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). These disorders are characterized by a wide spectrum of symptoms affecting different organs and systems in the body.

Role in Disease

Defects in the MT-ND2 gene can impair the function of Complex I, leading to a decrease in ATP production and an increase in the production of reactive oxygen species (ROS). This oxidative stress can damage cellular components and contribute to the pathogenesis of mitochondrial diseases.

Research

Research on the MT-ND2 gene is ongoing, with a focus on understanding the molecular mechanisms underlying mitochondrial disorders and developing potential therapeutic strategies. Studies investigating the role of MT-ND2 mutations in disease pathogenesis aim to improve diagnosis and treatment options for patients with mitochondrial disorders.

See also

• Mitochondrial DNA
• Mitochondrial Genetics
• Mitochondrial Disease