Ask about this productRelated genes to: AARS antibody
- Gene:
- AARS NIH gene
- Name:
- alanyl-tRNA synthetase
- Previous symbol:
- -
- Synonyms:
- CMT2N, AlaRS
- Chromosome:
- 16q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 1995-07-11
- Date modifiied:
- 2019-04-23
- Gene:
- AARS2 NIH gene
- Name:
- alanyl-tRNA synthetase 2, mitochondrial
- Previous symbol:
- AARSL
- Synonyms:
- KIAA1270, bA444E17.1
- Chromosome:
- 6p21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2003-05-08
- Date modifiied:
- 2018-05-03
Related products to: AARS antibody
Related articles to: AARS antibody
- Lactate, a metabolite which is elevated in various developmental and pathological processes, exerts its signal through alanyl tRNA synthetases (AARS)-catalyzed protein lactylation. Herein, we report that elevated lactate and gain-of-function mitochondrial AARS (AARS2) mutations-induced hyper-lactylation promotes premature ovarian insufficiency (POI). Serum lactate is elevated in POI patients. POI-driving AARS2 mutations gain lactyltransferase activity. AARS2 lactylates and inactivates carnitine palmitoyl transferase 2 (CPT2), resulting in FFA accumulation that activates peroxisome proliferator-activated receptor γ (PPARγ), and potentiates follicle-stimulating hormone (FSH) to initiate follicle development. These, in synergy with the anabolites accumulation effects of AARS2, promoted lactylation-induced PDHA1 inactivation promote granular cell (GC) proliferation and primordial follicle development. GC-specific AARS2 overexpression does not affect primordial follicle number but speed up follicle depletion. AARS2 ablation or lactylation-inhibiting β-alanine treatments can prevent folliculogenesis and POI traits in mouse. These findings reveal that lactate signal drives follicle development, and inhibiting lactate signal could treat/prevent POI. - Source: PubMed
Publication date: 2025/04/29
Zhang Zhi-LingRen Shu-TingYang Wan-JieXu Xiao-WenZhao Shi-MinFang Ke-FeiLin YanYuan Yi-YuanZhang Xiao-JinChen Yun-QinXu Wei - Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is an adult-onset, inherited white matter disorder encompassing two previously identified clinicopathologically similar entities: pigmentary orthochromatic leukodystrophy (POLD) and hereditary diffuse leukoencephalopathy with spheroids (HDLS). In this chapter, we discuss how advances in our genetic understanding of the condition have further delineated three distinct clinical entities within ALSP, namely CSF1R-related ALSP, AARS2-related leukoencephalopathy (AARS2-L), and AARS (HDLS-S). We provide descriptions of the clinical, radiologic, pathologic, and pathophysiologic findings in each entity, detailing their similarities and differences, and discuss current and future treatment options where available. - Source: PubMed
Wade CharlesLynch David S - Primary microglial leukodystrophy or leukoencephalopathy are disorders in which a genetic defect linked to microglia causes cerebral white matter damage. Pigmented orthochromatic leukodystrophy, adult-onset orthochromatic leukodystrophy associated with pigmented macrophages, hereditary diffuse leukoencephalopathy with (axonal) spheroids, and adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) are different terms apparently used to designate the same disease. However, ALSP linked to dominantly inherited mutations in (colony stimulating factor receptor 1) cause CSF-1R-related leukoencephalopathy (CRP). Yet, recessive ALSP with ovarian failure linked to (alanyl-transfer (t)RNA synthase 2) mutations (LKENP) is a mitochondrial disease and not a primary microglial leukoencephalopathy. Polycystic membranous lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; Nasu-Hakola disease: NHD) is a systemic disease affecting bones, cerebral white matter, selected grey nuclei, and adipose tissue The disease is caused by mutations of one of the two genes or , identified as PLOSL1 and PLOSL2, respectively. TYROBP associates with receptors expressed in NK cells, B and T lymphocytes, dendritic cells, monocytes, macrophages, and microglia. encodes the protein TREM2 (triggering receptor expressed on myeloid cells 2), which forms a receptor signalling complex with TYROBP in macrophages and dendritic cells. Rather than pure microglial leukoencephalopathy, NHD can be considered a multisystemic "immunological" disease. - Source: PubMed
Publication date: 2022/06/06
Ferrer Isidro - Mitochondrial alanyl-tRNA synthetase 2 gene () related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is considered ultra-rare with only 39 cases of AARS2-leukodystrophy previously reported. - Source: PubMed
Publication date: 2021/07/13
Axelsen Tobias MeltonVammen Tzvetelina LubenovaBak MadsPourhadi NelsanStenør Christian MidtgaardGrønborg Sabine - To study the clinical features of the diseases associated with aminoacyl-tRNA synthetases (ARS) deficiency. - Source: PubMed
Wu Teng-HuiPeng JingZhang Ci-LiuWu Li-WenYang Li-FenPeng PanPang NanYin FeiHe Fang