MT-TM

MT-TM is a mitochondrial DNA (mtDNA) gene that encodes for the mitochondrial tRNA for methionine (tRNA^Met). This gene is crucial for the process of translation within the mitochondria, enabling the synthesis of proteins necessary for mitochondrial function. The MT-TM gene is one of the 22 tRNA genes found in the human mitochondrial genome, which is a small, circular DNA molecule distinct from the nuclear DNA found in the cell nucleus.

Mitochondrial DNA, including MT-TM, is maternally inherited. Mutations in the MT-TM gene can lead to a variety of mitochondrial diseases, which are a group of genetically and clinically heterogeneous diseases. These conditions can affect multiple organ systems, but most commonly impact organs with high energy demands such as the brain, muscle, and heart. Diseases associated with mutations in the MT-TM gene include but are not limited to mitochondrial myopathy, Leber's hereditary optic neuropathy (LHON), and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

The diagnosis of diseases related to MT-TM mutations involves a combination of clinical evaluation, biochemical tests, and genetic testing. Management and treatment of these conditions are challenging and often focus on symptom relief and the prevention of disease progression. There is currently no cure for mitochondrial diseases, making research into these conditions and the genes involved, like MT-TM, of critical importance.