MT-RNR1

MT-RNR1 (Mitochondrially Encoded 12S RNA) is a gene that encodes the RNA component of the mitochondrial ribosome. This gene is located within the mitochondrial DNA and is crucial for the production of proteins that are necessary for the normal functioning of the mitochondria.

Function

The MT-RNR1 gene is responsible for the production of a type of RNA known as 12S ribosomal RNA (rRNA). This rRNA combines with proteins to form the small subunit of the mitochondrial ribosome, which plays a key role in the protein synthesis within the mitochondria. The small subunit binds to the messenger RNA (mRNA) and provides a platform where the amino acids can be joined together to form a protein.

Clinical Significance

Mutations in the MT-RNR1 gene have been associated with a variety of disorders. These include deafness, Leber's hereditary optic neuropathy (LHON), and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

Deafness

Certain mutations in the MT-RNR1 gene can cause non-syndromic hearing loss and deafness. This type of hearing loss is characterized by a moderate to severe loss of hearing, which begins in early childhood.

Leber's Hereditary Optic Neuropathy

Leber's hereditary optic neuropathy (LHON) is a condition related to changes in mitochondrial DNA, including mutations in the MT-RNR1 gene. This condition primarily affects the eyes, leading to vision loss.

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

MELAS is a rare genetic disorder characterized by stroke-like episodes, muscle weakness, and a buildup of lactic acid in the body. Mutations in the MT-RNR1 gene have been found in some people with this condition.

See Also

• Mitochondrial DNA
• Ribosome
• Protein synthesis
• Leber's hereditary optic neuropathy
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes