Ask about this productRelated genes to: PEO1 antibody
- Gene:
- TWNK NIH gene
- Name:
- twinkle mtDNA helicase
- Previous symbol:
- IOSCA, C10orf2
- Synonyms:
- PEO, PEO1, TWINKLE, FLJ21832, TWINL
- Chromosome:
- 10q24.31
- Locus Type:
- gene with protein product
- Date approved:
- 2000-08-11
- Date modifiied:
- 2016-10-11
Related products to: PEO1 antibody
Related articles to: PEO1 antibody
- Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease, with most sporadic cases caused by a single large mitochondrial DNA (mtDNA) deletion. We report the case of a 54-year-old woman with ptosis, external ophthalmoplegia, and proximal muscle weakness without any relevant family history. A muscle biopsy supported the diagnosis of sporadic CPEO. However, a muscle DNA analysis revealed multiple mitochondrial DNA (mtDNA) deletions. Whole-exome sequencing identified a heterozygous pathogenic TWNK variant [c.1121G>A (p.Arg374Gln)] absent in her parents, suggesting a de novo origin. Although TWNK pathogenic variants typically cause autosomal dominant CPEO, this case mimicked a sporadic form, thus highlighting the importance of a nuclear gene analysis in such cases. - Source: PubMed
Publication date: 2026/06/27
Yoshida ChiharuKubota AkatsukiKawamoto NorifumiTakahashi KensukeYano SatokaKomaki ShogoMaeda MeikoNaruse HiroyaMatsukawa TakashiHamada MasashiSatake WataruToda Tatsushi - Alternative splicing (AS) is prevalent in neuronal gene expression. However, its function in learning has not been systematically characterized. Here, by profiling pan-neuronal translatome changes during a learning paradigm, we show that AS remodels expression of neuronal genes with critical function in learning at the genome-wide scale. Intriguingly, AS operates on a functionally distinct gene set from those showing transcript abundance changes, serving as a separate regulatory layer in response to experience. Specifically, a neuronally enriched worm ortholog of a mitochondrial DNA helicase displays significant learning-associated AS changes, with both isoform types acting in a pair of sensory neurons to regulate learning with distinct functions. AS of modulates a cell-nonautonomous signal from neuronal mitochondria to peripheral tissues to regulate physiological states critical for learning. These results establish AS as a systematic regulator of learning and mechanistically reveal how AS shapes physiological states to facilitate learning. - Source: PubMed
Publication date: 2026/06/12
Chen MaotingWu MinKoterniak BinaGe MinghaiLiang JingtingCalarco JohnZhang Yun - Perrault syndrome is a genetically and clinically diverse autosomal recessive disorder characterized by sensorineural hearing loss in both sexes and primary ovarian insufficiency in females. This comprehensive review synthesizes data from various studies to map the genetic architecture of Perrault syndrome, highlighting mutations in fifteen principal genes: HSD17B4, HARS2, CLPP, LARS2, TWNK, ERAL1, RMND1, DAP3, PRORP, MRPL50, MRPL49, MRPS7, PEX6, GGPS1, and TFAM. Each of these genes plays a critical role either in mitochondrial function or peroxisomal processes, central to cellular energy metabolism and biosynthesis pathways. The review not only documents the spectrum of mutations found within these genes but also correlates specific genetic alterations with the range of phenotypes observed in patients, emphasizing the syndrome's allelic, locus, and clinical heterogeneity. The cohort demonstrates a distribution of 56.1% homozygous and 43.9% compound heterozygous variants, reflecting diverse ancestral backgrounds and potential selective pressures against deleterious alleles. The findings underscore the necessity for advanced genetic screening techniques in accurate diagnosis and the potential for gene-specific therapies that may mitigate some of the clinical manifestations of this complex condition. - Source: PubMed
Publication date: 2026/06/12
Tlili AbdelazizKhudeir Joudi Feras - TWNK, a mitochondrial hexameric DNA helicase, is crucial for the replication of mtDNA. Nonetheless, its biological functions in human cancers still largely unexplored. In this study, we reveal that TWNK expression is significantly elevated in hepatocellular carcinoma (HCC) tissues, and its elevation associates with poor patient prognosis. We further demonstrate that TWNK knockdown suppresses HCC proliferation and metastasis by inducing G1-to-S cell cycle arrest and inhibiting epithelial-to-mesenchymal transition (EMT). Conversely, forced TWNK expression enhances HCC cell proliferation and motility. Mechanistically, TWNK promotes HCC cell proliferation and invasion through augmenting mitochondrial DNA (mtDNA) content, which in turn boosts mitochondrial respiration and energy production through upregulation of mtDNA-encoded electron transport chain (ETC) genes. Additionally, we found that DNA hypomethylation and decreased miR-766-3p expression contribute, at least in part, to the upregulation of TWNK in HCC cells. Together, our results elucidate a novel oncogenic role for TWNK in HCC and highlight its potential as a target for therapeutic intervention. - Source: PubMed
Publication date: 2026/05/24
Xu XiaojunZhang JingYuan JianhuaWu BingJing ZheHe JieMu HantaoChang HulinYuan PengZhang Xiaohong - Perrault syndrome (PS) is a rare autosomal-recessive disorder characterized by bilateral sensorineural hearing loss, ovarian dysgenesis in females, and variable neurological impairment. Pathogenic variants in TWNK, encoding the mitochondrial helicase Twinkle, disrupt mtDNA maintenance and underlie a subset of PS cases. Here, we generated the first mouse models carrying patient-specific TWNK missense mutations c.814G > A (p.Ala272Thr) and c.1166C > T (p.Ala389Val), both in homozygosity and compound heterozygosity, using CRISPR/Cas9 editing. Mutant mice exhibit profound hearing loss, locomotor hypoactivity, and axonal peripheral neuropathy, while overall growth remains normal. Molecular assays reveal a significant reduction in mtDNA copy number and ATP content in muscle and brain, accompanied by impaired respiratory-chain function. These phenotypes faithfully recapitulate core features of human PS, establishing a genetically precise in vivo platform to dissect disease mechanisms and to evaluate targeted therapies for mitochondrial dysfunction and sensorineural hearing loss. - Source: PubMed
Publication date: 2026/02/28
Wang WeiDong XiangCao Chun-YuLi Hong-BoLv Ya-Feng