Ask about this productRelated genes to: LARS2 antibody
- Gene:
- LARS2 NIH gene
- Name:
- leucyl-tRNA synthetase 2, mitochondrial
- Previous symbol:
- -
- Synonyms:
- KIAA0028, LEURS, MGC26121, mtLeuRS
- Chromosome:
- 3p21.31
- Locus Type:
- gene with protein product
- Date approved:
- 2003-09-01
- Date modifiied:
- 2019-04-23
Related products to: LARS2 antibody
Related articles to: LARS2 antibody
- To our knowledge, this is the first carrier of the homozygous variant c.457A>C in LARS2 who has not only Perrault syndrome but also additional neurological symptoms. The patient is a 35-year-old man with a history of sensorineural hearing loss since birth, rare generalized tonic-clonic seizures, progressive gait disturbance and cognitive decline since the age of 33, and spasticity since the age of 34. Examination of his symptoms revealed a multisystem mitochondrial disorder due to the c.457A>C variant in LARS2, which manifested phenotypically as leukodystrophy, cognitive impairment, epilepsy, hearing loss, myopathy, and spastic tetraparesis. The patient benefited from drug treatment with levetiracetam (1000 mg/day) and a vitamin cocktail. In summary, this case suggests an association between the homozygous variant c.457A>C in LARS2 and a severe, adult-onset, neurologic phenotype including leukoencephalopathy, cognitive decline, progressive spastic tetraparesis, myopathy, and epilepsy within the expanding LARS2 spectrum. Physicians should be aware that LARS2 variants can manifest as a multisystem disorder and not just as Perrault syndrome. - Source: PubMed
Publication date: 2026/03/31
Finsterer Josef - Pressure overload-induced myocardial hypertrophy is associated with complex spatial and temporal remodeling of cardiac cell populations. However, the spatial organization of these changes and their dynamic transcriptional programs remain incompletely understood. Integrating spatial transcriptomics with single-cell RNA sequencing enables a comprehensive characterization of cardiac remodeling at high cellular and spatial resolution. - Source: PubMed
Publication date: 2026/03/04
Ni HanwenLiang FengHuo HuanhuanFeng XuechaoHe Ben - Perrault syndrome (PS) is a rare autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and primary ovarian insufficiency in females. , encoding mitochondrial leucyl-tRNA synthetase, is the most common causative gene for PS. However, the genetic spectrum and clinical variability of PS remain underexplored. Expanding the catalog of variants and correlating them with phenotypic data are critical for delineating genotype-phenotype relationships. - Source: PubMed
Publication date: 2026/02/18
Lin ZibinXiang JialeSun XiangzhongShi XinyuLiu XiaozhouCai QinmingYang JingSong NanaYe HaodongXu JiangfanPeng JiguangOu XianghongSun YuPeng Zhiyu - Platinum-based chemotherapy remains a cornerstone of cancer treatment; however, its clinical efficacy is frequently compromised by acquired drug resistance. Our study elucidated a novel resistance mechanism mediated by LARS2 signaling in mammary tumors. Through comprehensive multi-omics analyses of cancer patients, mouse models, and functional validation, we demonstrated that platinum treatment upregulates LARS2 via a danger-triggered host response during resistant tumor progression, concomitant with increased chromatin accessibility. This signaling drives drug resistance through two key mechanisms: enrichment of cancer stem cells and promotion of TGF-β-mediated immunosuppression, as evidenced by M2 macrophage polarization and CD8 T cell exhaustion. Importantly, we developed an effective therapeutic strategy combining carboplatin with LARS2 signaling pathway inhibition, which successfully reversed platinum resistance and restored PD-1 checkpoint blockade sensitivity in preclinical models. These findings not only advance our understanding of chemotherapy resistance, but also provide a translatable therapeutic framework for breast cancer and other platinum-treated malignancies. - Source: PubMed
Publication date: 2025/11/28
Wang YuqingDeng MinLei HaipengMiao KaiShu XiaodongLi JianjieTang DongyangFeng YangyangSu Sek ManLi LingWang YanjieSun HengShao FangyuanAn TingtingLi XiaolingZhou FanlinXiang TingxiuXu XiaolingDeng Chuxia - Sexual dimorphism in mouse gonads becomes evident at around embryonic day (E)12.5, followed by germ cell differentiation. While prior studies have concentrated on protein-coding genes, our research expands this by profiling the complete spectrum of stranded RNAs including long and short RNAs in one preparation. We identified 2419 differentially expressed genes (DEGs) in the comparison between E12.5 and E11.5 mouse gonads, along with 333 and 770 DEGs in E13.5 versus E12.5 and in E14.5 versus E13.5, respectively. A total of 22 RNA types were annotated, highlighting mRNA, tRNA, long non-coding RNA, antisense RNA, small nucleolar RNA, and microRNA as the most significantly varied types. Serial chromosomal ideographs revealed active chromatin hubs encompassing Hox, tRNA, and stefin gene clusters. Chromosomes 11 and 13 exhibited a higher density of DEGs. Notably, some unassigned reads were mapped to the TESCO (testis-specific enhancer core sequence enhancer), with quantitative PCR results confirming elevated expression of TESCO enhancer RNA at E12.5. By integrating data from public databases, we propose potential regulatory networks involving transcription factors, miR6236, Snord33, long intergenic non-coding RNA , , and . Our study provides the first complete stranded RNA profiling during early gonad development and serves as a reference for future functional genetic and epigenetic research in reproductive biology. - Source: PubMed
Publication date: 2025/05/02
Ou FanghongWang ZhangtingChan See-WingMiu Kai-KeiChan Wai-Yee