CYB5R3 _ Dia 1 (mouse)
- Known as:
- CYB5R3 _ Dia 1 (mouse)
- Catalog number:
- Y214352
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- CYB5R3 _ Dia 1 (mouse)
Related genes to: CYB5R3 _ Dia 1 (mouse)
- Gene:
- CYB5R3 NIH gene
- Name:
- cytochrome b5 reductase 3
- Previous symbol:
- DIA1
- Synonyms:
- -
- Chromosome:
- 22q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2016-01-18
Related products to: CYB5R3 _ Dia 1 (mouse)
Related articles to: CYB5R3 _ Dia 1 (mouse)
- Alterations in the mitochondrial genome integrity, including changes in mitochondrial DNA copy number (mtDNA-CN) and accumulation of mtDNA mutations, are associated with aging and diverse disorders, often linked to underlying systemic inflammation and metabolic stress. In sickle cell disease (SCD), inflammation drives the pathology, resulting in organ damage and early mortality. The prognostic role of mitochondrial genomic variation in SCD is largely unexplored. This study investigated whole blood derived mtDNA alterations, including mtDNACN and mtDNA mutations, in adults with SCD, sickle trait, and healthy controls, and examined their associations with age and mortality in SCD. We also assessed mtDNA heteroplasmy distribution across tissues in a humanized mouse model of SCD. Elevated mtDNA-CN and mtDNA heteroplasmy burden were observed with increasing genotype severity across all cohorts (HbAA, HbAS < HbSB+ < HbSC < SCA (HbSS and HbSβ0)). In sickle cell anemia (SCA) patients, mtDNA mutation burden- including mtDNA heteroplasmy and mtDNA deletions increased with age, whereas mtDNA-CN level declined, indicating progressive deterioration of mtDNA integrity with age. In SCD patients, specific mtDNA variants showed strong positive correlations with mortality risk, lower mtDNA-CN correlated with higher NIH risk scores, and nuclear variants CYB5R3 T117S and PIEZO1 E756del influenced mtDNA mutation burden without affecting NIH risk score. Consistent patterns of mutational load were observed across specific regions in mitochondrial genome in both humans and mice, suggesting potential mtDNA mutational hotspots. We conclude that variations in the mitochondrial genome are potential prognostic markers for SCD. - Source: PubMed
Publication date: 2026/03/19
Ray RudraLi HaiouGao ShijinqiuAsomaning NancyLe KangAhmad Maliha MWang XundeLi YueshengKamimura SayuriDalgard Clifton LLiu ChengyuQuezado Zenaide M NLack JustinTumburu LaxminathThein Swee Lay - The total cavopulmonary anastomosis (Fontan procedure), a palliative procedure for single-ventricle congenital heart disease, improves survival but is associated with progressive multiorgan complications and high long-term morbidity. Prior blood-based proteomic studies in adults have been limited to targeted antibody-based panels or focused on methodological comparisons. Systemic molecular alterations in younger, clinically heterogeneous patients, particularly in untargeted pathways, remain incompletely characterized. Serum samples from 48 Fontan patients and 48 age- and sex-matched healthy controls were analyzed using mass spectrometry with TMT labeling. 2228 proteins were quantified, of which 124 were significantly differentially abundant (fold change > 1.5 or <0.67, FDR-adjusted < 0.05). Network analysis identified three major functional clusters: extracellular matrix (ECM) organization (predominantly increased), actin cytoskeleton organization, and platelet-related pathways (both predominantly decreased). Stratified analyses showed reduced ECM protein abundance in high-risk patients, suggesting a shift from active remodeling toward a more established fibrotic state, and uniquely elevated cytochrome b5 reductase 3 (CYB5R3), implicating altered redox homeostasis, nitric oxide metabolism, and cellular aging. Overall, our findings extend prior targeted analyses, reveal potential biomarkers such as CYB5R3 and underscore the complexity of the Fontan circulation, with implications for risk stratification and therapeutic targeting. - Source: PubMed
Publication date: 2026/01/26
Blaha AlexanderRenaud DavidAgeed FatimaSarg BettinaFaserl KlausKirchmair AlexanderRieder DietmarMihajlovic IsabelStröbel NeleLaser Kai ThorstenMichel Miriam - Pulmonary arterial hypertension (PAH) is a serious disorder, in which increased vascular tone is one of the critical hallmarks. Since beta arrestins (bArrs) have been shown to regulate smooth muscle tone in the airways, we investigated the function of bArr1 in the pulmonary vasculature. Here, we report that bArr1 is essential for maintaining normal pulmonary arterial tone. Specifically, pulmonary arteries from bArr1-/- mice exhibited reduced NO-dependent vasorelaxation due to impaired soluble guanylyl cyclase (sGC) activity, which was restored by the heme-independent sGC activator BAY58-2667. We identified bArr1 as a binding partner of sGC and the sGC heme reductase cytochrome b5 reductase (Cyb5r3), indicating that bArr1 is vital for sensitizing sGC to NO. Finally, mice with either ubiquitous or smooth muscle-specific bArr1 deficiency developed pulmonary hypertension (PH). These findings highlight the important role of bArr1 in regulating pulmonary vascular tone and propose it as a potential therapeutic target for the treatment of PH. - Source: PubMed
Publication date: 2026/02/09
Lebender Leonard FSeidinger AlexanderMatthey MichaelaDyck BirteSchlamm ChristianKaddoura AbdullahHausherr MaximilianEggers BrittaMarcus KatrinKostenis EviGieselmann VolkmarAdamzik MichaelKlinke AnnaKoos BjörnFleischmann Bernd KWenzel Daniela - Recessive congenital methemoglobinemia (RCM) is a rare autosomal recessive disorder characterized by a deficiency of NADH-cytochrome b5 reductase. Under normal conditions, cytochrome b5 reductase and NADH reductase maintain methemoglobin in the physiological range by keeping heme iron in the Fe state. RCM presents in two clinical forms. Type I presents with isolated cyanosis, while type II presents also with severe neurocognitive manifestations. Genetic analysis of the gene is often used for diagnosis. Treatment with methylene blue, ascorbic acid, or riboflavin can reduce cyanosis, but does not affect neurological outcomes. - Source: PubMed
Publication date: 2026/02/04
Neven JulieBeyltjens TessiMeuwissen Beyltjens E CDe Bisschop BarbaraBouziotis Jasonvan den Akker Machiel - We and others discovered a highly conserved mitochondrial transmembrane microprotein, named Mitoregulin (Mtln), that supports lipid metabolism. We reported that Mtln strongly binds cardiolipin (CL), increases mitochondrial respiration and Ca2+ retention capacities, and reduces reactive oxygen species (ROS). Here, we extend our observation of Mtln-CL binding and examine Mtln influence on cristae structure and mitochondrial membrane integrity during stress. - Source: PubMed
Stein Colleen SZhang XiaomingWitmer Nathan HPennington Edward RossHahn ScottStraub Adam CShaikh Saame RazaBoudreau Ryan L