MT-RNR1

MT-RNR1

Diagram of the human mitochondrial genome, including MT-RNR1.

MT-RNR1 is a gene located in the mitochondrial DNA of humans. It encodes for the 12S ribosomal RNA, which is a component of the mitochondrial ribosome. This gene is crucial for the proper functioning of the mitochondrial ribosome, which is responsible for protein synthesis within the mitochondria.

Structure

The MT-RNR1 gene is part of the mitochondrial genome, which is a circular DNA molecule distinct from the nuclear genome. The mitochondrial genome is approximately 16,569 base pairs in length and contains 37 genes. MT-RNR1 is located near the origin of replication of the mitochondrial DNA and is transcribed as part of a larger polycistronic RNA molecule.

Function

MT-RNR1 encodes the 12S ribosomal RNA, a component of the small subunit of the mitochondrial ribosome. The mitochondrial ribosome is responsible for translating mitochondrial mRNAs into proteins that are essential for the electron transport chain and oxidative phosphorylation. These processes are critical for ATP production in the cell.

Clinical Significance

Mutations in the MT-RNR1 gene have been associated with aminoglycoside-induced ototoxicity and certain forms of sensorineural hearing loss. Individuals with specific mutations in MT-RNR1 may be more susceptible to hearing loss when exposed to aminoglycoside antibiotics. Genetic testing can identify these mutations, allowing for personalized medical management to prevent hearing damage.

Related Pages

• Mitochondrial DNA
• Ribosomal RNA
• Mitochondrial ribosome
• Aminoglycoside
• Hearing loss