Ask about this productRelated genes to: HADHB Blocking Peptide
- Gene:
- HADHB NIH gene
- Name:
- hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
- Previous symbol:
- -
- Synonyms:
- MTPB
- Chromosome:
- 2p23.3
- Locus Type:
- gene with protein product
- Date approved:
- 1994-12-16
- Date modifiied:
- 2017-09-15
Related products to: HADHB Blocking Peptide
Related articles to: HADHB Blocking Peptide
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long-chain fatty acid β-oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22-year-old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN). Trio genome sequencing identified a maternally inherited HADHA frameshift pathogenic variant and a paternally inherited noncoding rare HADHA variant. The paternal noncoding variant was predicted by in silico splicing analysis to create a cryptic splice donor site. This was experimentally confirmed to partially perturb splicing, leading to partial disruption of normal splicing and the production of both normal and aberrant transcripts. Transcripts derived from the cryptic donor site were subject to nonsense-mediated decay (NMD). As a result, the proband's cells produced three HADHA transcripts: a truncated maternal transcript that was destroyed by NMD, an abnormally spliced paternal transcript also subject to NMD, and a normally spliced paternal transcript. The presence of residual normally spliced HADHA transcripts from the paternal allele likely contributes to partial preservation of LCHAD enzyme function and provides a plausible explanation for the proband's attenuated clinical phenotype. - Source: PubMed
Publication date: 2026/04/27
Furuta YutakaRives Lynette CBurrow T AndrewCassini Thomas ATinker Rory JRobertson Amy KEzell Kimberly MHamid RizwanCogan Joy DPhillips John A - Ulcerative colitis (UC) is characterized by mucosal inflammation and a range of clinical symptoms, including abdominal pain, diarrhoea and bloody stools. Evidence indicates that UC is associated with an imbalance M1/M2 polarization of macrophages. Ginsenoside compound K (GCK) has anti-inflammatory potential the mechanism of action remains unclear. Whether GCK regulates macrophage polarization via β-subunits of long-chain L-3-hydroxyacyl-CoA (HADHB)-mediated fatty acid oxidation (FAO)b was investigated. - Source: PubMed
Publication date: 2026/04/01
Liu LiliLiu MengxueZhang YanqiuZeng XuranWang QiaoChen Jingyu - Long noncoding RNAs (lncRNAs) are critical regulators of immune responses and cellular metabolism. Here, we report a previously unrecognized interaction between and HADHB, which reveals additional regulatory roles for in human macrophages. Our findings demonstrate that -HADHB interaction significantly enhances HADHB thiolase activity during the late phase of inflammation via HuR-MTCH2-mediated mitochondrial targeting of . also negatively regulates the pro-inflammatory macrophage activation via HADHB. Knockdown of induces metabolic reprogramming, characterized by enhanced glycolysis, increased fatty acid synthesis, and reduced fatty acid oxidation, suggesting that suppresses inflammatory metabolic pathways. This study uncovers the -HADHB interaction and demonstrates that regulates macrophage metabolic reprogramming, offering new insights into the metabolic control of inflammation and highlighting as a potential therapeutic target for inflammatory diseases. - Source: PubMed
Publication date: 2026/02/20
Liu YuxiangNakayama YukiteruSugita JunichiOshima TsukasaKani KunihitoKobayashi AtsushiSetoguchi NaotoIwai YoshikoManabe IchiroFujiu Katsuhito - Oxidative stress and mitochondrial dysfunction are major barriers to the healing of diabetic wounds (DW). Eliminating reactive oxygen species (ROS) and restoring mitochondrial function are considered effective strategies to accelerate DW healing. Although extracellular vesicles (EVs) derived from mesenchymal stem cells (MSCs) have shown therapeutic potential, the quality and yield of mitochondrial components in naturally secreted EVs are limited. Thus, we employed a top-down approach, using the self-assembly properties of membrane components to develop artificial nanovesicles enriched with mitochondria-associated proteins derived from human umbilical cord MSCs. These cell-derived nanovesicles (CNVs) selectively encapsulate mitochondrial proteins, effectively reducing intracellular ROS levels and specifically restoring mitochondrial membrane potential (∆Ψm) and morphology. Furthermore, the CNVs demonstrate remarkable antioxidant and mitochondrial functional restoration capacity, involving the restoration of mitochondrial complexes I, Ⅲ, V and the uncoupling process, as well as multiple mitochondrial function-associated pathways, such as the ALDH2/HADHA/HADHB axis, the IDH2/GSR/GSH axis, and the Ca/VDAC1 axis. In vivo experiments further validated the therapeutic potential of CNVs, which significantly promoted wound healing in diabetic mice. In conclusion, our study emphasizes the potential of artificial nanovesicles containing organelle-associated proteins in DW therapy, providing a novel and promising strategy for organelle-based disease treatment. - Source: PubMed
Publication date: 2026/02/05
Xia JunhaoWang LizhiSong YangZhu MengruXu YuLiu JiaGuan XinZhang QingwenHe KemanWang FengyaLiu LukuanLiu Jing - Mitochondrial dysfunction is a hallmark of myocardial infarction (MI), yet the molecular mechanisms linking metabolic reprogramming in the ischemic myocardium to systemic biomarker signatures remain incompletely understood. In this study, we employed a data-independent acquisition mass spectrometry (SWATH-MS) strategy integrating multi-omics analysis with upstream regulatory network analysis to investigate mitochondrial energy pathway alterations in a preclinical ovine model of MI. Proteomic profiling of infarcted myocardium revealed a pronounced shift from oxidative phosphorylation to glycolysis, accompanied by coordinated suppression of mitochondrial fatty acid β-oxidation enzymes. This metabolic reprogramming was strongly associated with four upstream master regulators, most notably predicted inhibition and significant transcriptional downregulation of , a key coactivator of mitochondrial biogenesis and oxidative metabolism, indicating disrupted mitochondrial energy homeostasis and impaired adaptive responses in ischemic cardiomyocytes. Parallel plasma proteomic analysis identified a distinct panel of differentially expressed proteins enriched in pathways related to carbon metabolism, amino acid biosynthesis, and cardiac muscle contraction. Notably, mitochondrial metabolic enzymes such as , , , and were significantly downregulated at both the transcript and protein levels in cardiac tissue, while their protein abundance was markedly increased in plasma post-MI, highlighting their potential as circulating biomarkers of mitochondrial dysfunction. These findings provide mechanistic insight into the energy metabolic remodeling that occurs during myocardial ischemic injury and establish a systems-level framework for linking tissue-specific mitochondrial alterations with accessible plasma biomarkers. This study supports the translational potential of targeting mitochondrial pathways for diagnostic and therapeutic strategies in ischemic heart disease. - Source: PubMed
Publication date: 2025/11/13
Paramasivan SelvamLock Mitchell CBarrero Roberto AMills Paul CMorrison Janna LSadowski Pawel