Ask about this productRelated genes to: SORD antibody
- Gene:
- SORD NIH gene
- Name:
- sorbitol dehydrogenase
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 15q21.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2016-10-05
Related products to: SORD antibody
Related articles to: SORD antibody
- Zika virus (ZIKV) can persist in mosquito populations through both horizontal and vertical transmission, and successful ovarian infection is a prerequisite for transgenerational spread. However, the mosquito host factors that regulate ovarian permissiveness and vertical transmission remain poorly characterized. Here, we investigated the role of cytochrome P450 4G15 () in ZIKV infection and vertical transmission in and identified an associated downstream pathway involving , a predicted sorbitol dehydrogenase-like gene. Expression profiling revealed that exhibits distinct tissue-, developmental-, blood-feeding-, and infection-responsive patterns, with transient induction in ovaries during the early phase of ZIKV infection. RNA interference-mediated silencing of , followed by transcriptomic analysis and RT-qPCR validation, identified (LOC109415972) as a candidate -associated gene. was highly expressed in the fat body, strongly induced after blood feeding, and responsive to ZIKV challenge in ovarian tissues. Functional assays showed that knockdown of significantly reduced early ovarian infection rate and viral RNA accumulation, while also decreasing conditional progeny egg-pool positivity rate and minimum egg infection rate, indicating reduced ZIKV RNA detection in progeny egg pools. silencing did not alter transcript levels, whereas overexpression was associated with increased transcript abundance and functionally compensated for the ovarian viral RNA phenotype caused by knockdown. Together, these findings support a functional association between , and ovarian ZIKV infection, but do not establish direct transcriptional regulation or a strict linear epistatic relationship. Our findings reveal a -e-associated metabolic-regulatory pathway that links mosquito physiology to arbovirus persistence. Given that -related pathways are often associated with environmental adaptation and insecticide resistance-associated physiology, this pathway may represent an important point of intersection between vector fitness and viral transmission. It may therefore serve as a candidate target for reducing egg-associated ZIKV RNA detection and ZIKV maintenance in populations. - Source: PubMed
Publication date: 2026/08/27
Chen MeiZhang YajingZhong WenweiHong MeiGu JinbaoLai Zetian - Inherited peripheral neuropathies (IPNs) comprise a clinically and genetically heterogeneous group of disorders affecting approximately 1 in 2500 individuals and represent one of the most common inherited neurologic diseases. The rapidly expanding identification of disease-causing genes and the widespread implementation of next-generation sequencing (NGS) have fundamentally transformed the diagnostic evaluation of these disorders. Contemporary molecular testing has substantially increased diagnostic yield, shortened the diagnostic delay, refined disease classification, and strengthened genotype-phenotype correlations. In the United States, NGS-based multigene panels have become the most cost-effective first-line molecular diagnostic approach for most patients with suspected inherited neuropathies, whereas phenotype-directed single-gene testing remains appropriate in selected clinical circumstances and in healthcare systems in which access to comprehensive sequencing is limited. Despite these advances, challenges continue to affect diagnostic accuracy, including interpretation of variants of uncertain significance, detection of copy number variants and repeat expansions, technical limitations associated with highly homologous genomic regions such as SORD, and variability in gene content and analytic performance among commercially available testing platforms. Accurate diagnosis therefore requires integration of clinical phenotype, electrodiagnostic findings, family history, and molecular data. Establishing a precise genetic diagnosis has become increasingly important because it improves prognostic accuracy, guides genetic counseling and cascade testing, identifies patients with treatable hereditary neuropathies such as transthyretin amyloidosis, and facilitates enrollment in gene-specific clinical trials and emerging precision therapies. An evidence-based, phenotype-driven approach that incorporates contemporary molecular technologies is essential to maximize diagnostic efficiency while recognizing the strengths and limitations of currently available genetic testing strategies. - Source: PubMed
Publication date: 2026/09/09
Saporta Mario A - Distal weakness requires an extensive differential diagnosis. In this case, conduction blocks indicated multifocal motor neuropathy, but immunotherapy proved ineffective. Ultimately, genetic testing revealed a sorbitol dehydrogenase mutation, highlighting the importance of combining electrophysiological findings with molecular studies in cases where the diagnosis remains unclear. - Source: PubMed
Publication date: 2026/09/01
Bucur Amiela AngeliRodolico GabrieleTessa AlessandraSantorelli Filippo MariaSperti MartinaLeccese DeborahMaturo MarioMatà Sabrina - The carcinogenic relevance of environmental contaminant bisphenol A (BPA) to colorectal cancer (CRC) has gained growing attention, yet the molecular networks potentially linking BPA exposure to CRC remain incompletely characterized. This study integrated network toxicology and machine learning to predict candidate molecular targets and putative signaling networks associated with BPA-correlated colorectal carcinogenesis. The study's methodology involved an initial differential expression screening across several CRC transcriptomic datasets to establish a disease-specific gene signature. Subsequently, a multi-tiered computational strategy was employed: network toxicology was used to map potential BPA-protein interactions, machine learning algorithms were applied to distill a minimal set of high-impact targets, and molecular docking simulations provided atomic-level validation of the proposed binding events. We identified 53 overlapping genes between predicted BPA-interacting proteins and CRC-related transcripts. Machine learning screening further filtered a 12-gene panel with favorable predictive performance for CRC status, including MET, SORD, DPEP1, KIT, RIPK2, SET, HSP90AB1, DBF4, MMP1, MMP12, ANPEP, and GLA. Molecular docking simulations predicted stable binding interactions between BPA and the protein products encoded by these 12 genes. This study delineates a specific gene network potentially targeted by BPA to promote CRC pathogenesis. The machine learning-derived 12-gene signature, interpreted as CRC-associated genes overlapping with predicted BPA targets and supported by in silico molecular docking, offers valuable insights into the molecular basis of BPA-associated colorectal carcinogenesis and presents candidate targets for subsequent experimental validation. - Source: PubMed
Publication date: 2026/08/16
Li XiaoxuanMai GenningXiao YuexiZhao RuijunHuang XiyueLi JunxiXiao YuchenDeng ZhujunLi MiaoXiong Wenjun - Biallelic pathogenic variants in SORD (Sorbitoldehydrongenase gene), encoding sorbitol dehydrogenase, are a common cause of autosomal recessive axonal Charcot-Marie-Tooth disease type 2 (CMT2). Recent evidence suggests direct involvement of skeletal muscle in addition to peripheral nerve degeneration. We investigated muscle biopsies from 4 genetically confirmed CMT-SORD patients using an integrative approach. Histological evaluation revealed features of chronic denervation with grouped fiber atrophy, fiber-type grouping and central nuclei, ie, non-specific neurogenic muscle atrophy. Ultrastructural studies demonstrated mitochondrial abnormalities and expansion of the sarcoplasmic reticulum (SR). Proteomic profiling identified 220 significantly dysregulated proteins in CMT-SORD muscle, including alterations in mitochondrial complex I components, redox enzymes, and metabolic regulators distinct from changes observed in other rare recessive CMTs. Quantitative PCR validated increased levels of NNMT, POSTN, TACO1, as well as complement and immunomodulatory factors, suggesting mitochondrial stress, compensatory metabolic activation and tissue remodeling. Despite mitochondrial vulnerability, serum studies indicated that GDF-15 and FGF-21 did not appear to be suitable biomarkers for CMT-SORD. These findings demonstrate that SORD deficiency induces molecular and structural changes in skeletal muscle that extend beyond denervation, implicating impaired sorbitol metabolism, oxidative stress, and mitochondrial dysfunction as intrinsic myopathic features of SORD-related CMT2. They indicate the need for therapeutic strategies targeting both neuronal and muscular compartments. - Source: PubMed
Publication date: 2026/08/19
Kölbel HeikeHentschel AndreasPreuße CorinnaTiet MayDohrn Maike FMuhmann Davidvan den Ameele JelleChen LeiSchara-Schmidt UlrikeWeis JoachimHorvath RitaMensch AlexanderRoos Andreas