MT-RNR1: Difference between revisions

Latest revision as of 16:28, 16 February 2025

MT-RNR1[edit]

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[edit]

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[edit]

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[edit]

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[edit]

Template:Mitochondrial genetics

@@ Line 1: / Line 1: @@
-'''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]].
+== MT-RNR1 ==
+[[File:Map_of_the_human_mitochondrial_genome.svg|thumb|right|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 ==
-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.
+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 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 ===
+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.
-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 ===
+== Related Pages ==
-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]]
+* [[Ribosomal RNA]]
-* [[Protein synthesis]]
+* [[Mitochondrial ribosome]]
-* [[Leber's hereditary optic neuropathy]]
+* [[Aminoglycoside]]
-* [[Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes]]
+* [[Hearing loss]]
-[[Category:Genes]]
+{{Mitochondrial genetics}}
-[[Category:Mitochondrial diseases]]
-[[Category:RNA]]
-{{medicine-stub}}
+[[Category:Human mitochondrial genes]]
+[[Category:Ribosomal RNA]]