MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G) [Homo sapiens (human)] - Gene

Summary

Official Symbol: MT-TL1provided by HGNC
Official Full Name: mitochondrially encoded tRNA leucine 1 (UUA/G)provided by HGNC
Primary source: HGNC:HGNC:7490
See related: MIM:590050; AllianceGenome:HGNC:7490
Gene type: tRNA
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTTL1; TRNL1
Summary: Implicated in cardiomyopathy. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	MT (non-nuclear)	NC_012920.1 (3230..3304)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	MT (non-nuclear)	NC_012920.1 (3230..3304)

Chromosome MT - NC_012920.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.
Title: Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy.
Study in transmitochondrial cybrid model of MELAS (100% m.3243A>G mutant mitochondrial DNA) provides cutting-edge information on the involvement of microRNAs (miRNAs) in the cell response to the mitochondrial dysfunction associated with mutation m.3243A>G in mitochondrial tRNA Leu(UUR) gene. Some miRNAs are direct regulators of fetal cardiac genes such which are up-regulated in MELAS cybrids.
Title: The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.
A missense mutation in TRNL1 associated with familial hematuria in a family with focal segmental glomerulosclerosis.
Title: Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.
Data suggest that subjects with point mutation 3243A>G in mtRNA-Leu(UUR) develop MIDD (maternally inherited diabetes and deafness); as compared to patients with T1DM (type 1 diabetes mellitus) or early-onset T2DM (type 2 diabetes mellitus) matched for sex, age, duration of diabetes, such MIDD patients have highest rate of osteoporosis.
Title: The clinical characteristics of patients with mitochondrial tRNA Leu(UUR)m.3243A > G mutation: Compared with type 1 diabetes and early onset type 2 diabetes.
we present comprehensive clinical and laboratory data for 50 individuals with the m.3243A> G MTTL1 mutation, as well as information focusing specifically on the sequence of symptoms.
Title: The phenotypic spectrum of fifty Czech m.3243A>G carriers.
Data suggest that a mutation in tRNA(Leu)(UUR) (3253 T->C) in mitochondrial DNA is associated with maternally inherited hypertension in a Han Chinese family; this mutation alters the conformation, stability, and function of tRNA(Leu); tRNA(Leu) with mutation 3253 T->C exhibits 35% reduction in aminoacylation efficiency as compared to control.
Title: A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNA(Leu(UUR)).
MT-ND4 and MT-TL1 genetic variation might be associated with male infertility in Chinese patients.
Title: Mitochondrial variations in the MT-ND4 and MT-TL1 genes are associated with male infertility.
The m.3243A>G MTTL1 mutation is the most common cause of mitochondrial disease and it can cause intestinal pseudo-obstruction.
Title: Pseudo-obstruction, stroke, and mitochondrial dysfunction: A lethal combination.
mutation of transfer RNA(Leu(UUR)) disrupted the highly conserved base pairing (2T-71A) and resulted a failure in mt-tRNA metabolism. Analysis of the mitochondrial copy number showed that the patients with PCOS and insulin resistance had lower copy number than the health controls, suggesting that mitochondrial dysfunction may be involved in the pathogenesis of insulin resistance
Title: The Mitochondrial tRNALeu(UUR) A3302G Mutation may be Associated With Insulin Resistance in Woman With Polycystic Ovary Syndrome.
A family with MTTL1 A3243G mutation is described. Clinical presentations were varied with symptoms ranging from hearing loss, migraines, dementia, seizures, diabetes, visual manifestations, and stroke like episodes.
Title: MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation.

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Phenotypes

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Associated conditions

Description	Tests
MERRF syndrome MedGen: C0162672 OMIM: 545000 GeneReviews: Primary Mitochondrial Disorders Overview, MERRF	Compare labs
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MedGen: C0162671 OMIM: 540000 GeneReviews: Primary Mitochondrial Disorders Overview, MELAS	Compare labs