MT-RNR2

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Map of the human mitochondrial genome.svg

MT-RNR2 is a gene that encodes the mitochondrial ribosomal RNA (rRNA) 16S, a component of the mitochondrial ribosome. Mitochondrial ribosomes, or mitoribosomes, are responsible for the synthesis of mitochondrial proteins, which are crucial for the mitochondrial electron transport chain and, by extension, cellular respiration and energy production. The MT-RNR2 gene is located within the mitochondrial DNA (mtDNA), distinguishing it from the majority of other genes that are encoded in the nucleus. This gene plays a critical role in the proper functioning of the mitochondria and, therefore, in the energy metabolism of the cell.

Function[edit | edit source]

The primary function of the MT-RNR2 gene is to encode the 16S rRNA of the mitochondrial ribosome. This rRNA acts as a scaffold for the assembly of ribosomal proteins to form the large subunit of the mitoribosome. The mitoribosome is essential for the translation of 13 critical proteins involved in the mitochondrial electron transport chain, which is a key component of oxidative phosphorylation, the process by which cells generate ATP (adenosine triphosphate). ATP serves as a universal energy currency in cells, fueling various cellular processes.

Genetic Characteristics[edit | edit source]

The MT-RNR2 gene is one of the 37 genes found in the mitochondrial genome, which is a small, circular DNA molecule distinct from the chromosomal DNA located in the cell nucleus. Mitochondrial DNA is inherited maternally, meaning that the MT-RNR2 gene, along with the rest of the mitochondrial genome, is passed from mother to offspring. This maternal inheritance pattern plays a significant role in the study of genetic diseases and evolutionary biology.

Clinical Significance[edit | edit source]

Mutations in the MT-RNR2 gene can lead to mitochondrial dysfunction, affecting the mitochondrial electron transport chain's efficiency and, consequently, ATP production. This can result in a variety of mitochondrial diseases, which are a group of disorders caused by dysfunctional mitochondria. Symptoms of these diseases can vary widely but often include muscle weakness, neurological problems, and issues with heart, liver, and other organs. Given the essential role of mitochondria in energy production, mutations in mitochondrial genes like MT-RNR2 can have profound effects on the body.

Evolutionary Aspects[edit | edit source]

The MT-RNR2 gene, like other mitochondrial genes, is also of interest in evolutionary studies. The mitochondrial genome is highly conserved across species, making it a valuable tool for tracing evolutionary lineages and studying the molecular clock of evolution. The conservation of the MT-RNR2 gene across different species underscores its fundamental role in cellular energy metabolism.

See Also[edit | edit source]

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Contributors: Prab R. Tumpati, MD