Ask about this productRelated genes to: PMPCB antibody
- Gene:
- PMPCB NIH gene
- Name:
- peptidase, mitochondrial processing beta subunit
- Previous symbol:
- -
- Synonyms:
- MPPB, MPPP52
- Chromosome:
- 7q22.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-07-22
- Date modifiied:
- 2016-03-15
Related products to: PMPCB antibody
Related articles to: PMPCB antibody
- Pmpcb (peptidase, mitochondrial processing beta subunit) gene encodes the catalytic subunit of mitochondrial processing peptidase, and its mutation is associated with human multiple mitochondrial dysfunction syndrome type 6 (MMDS6), presenting with severe neurodegenerative lesions clinically. Nonetheless, the potential molecular mechanisms underlying pmpcb deficiency induced abnormal development of the central nervous system (CNS) and the related diseases have not been fully elucidated. In this study, we found that zebrafish larvae with a functional deficiency of pmpcb (pmpcb) exhibited reduced neural cells, uncompacted myelin, and dysfunctional locomotor behaviors. Mechanistically, the decrease in mitochondrial membrane potential and insufficient ATP synthesis in pmpcb zebrafish contributes to elevated reactive oxygen species (ROS) stress and endoplasmic reticulum (ER) stress and the consequent neural cell apoptosis. These partially impaired WNT/β-Catenin signaling activities and the subsequent neural cell formation, ultimately associating with the CNS and locomotor behavior defects in zebrafish. Meanwhile, WNT agonist 6-Bromoindirubin-3'-oxime (BIO), ATP precursor creatine (CRE), ER stress scavenger 4-phenylbutyric acid (PBA), and glial cell specific gene gfap (glial fibrillary acidic protein) promoter driven stable expression of pmpcb (Tg(gfap:pmpcb)), each effectively mitigated the CNS defects in the pmpcb mutants. Additionally, larvae of the Tg(gfap:pmpcb) line were more resistant to heavy metal stress and bacterial infection. This study demonstrates for the first time the significance of Pmpcb's role in CNS development, stress resistance and locomotor behavior. Our findings provide new insights into the mechanisms and potential diagnostic strategies for the related diseases. - Source: PubMed
Publication date: 2026/04/18
Jing YuanYuanPeng HuiTai ZhiPengLi GuoLiangLiu Jing-Xia - This study intended to explore the molecular mechanisms and the mitochondrial metabolic characteristics of sepsis-associated acute kidney injury (S-AKI) through bioinformatics analysis and experimental validation. - Source: PubMed
Publication date: 2025/10/17
Xia YichunQian YimingHu GuanyuPu YuehongGuo Jian - Mitochondrial dysfunction is a pivotal driver in the pathogenesis of acute kidney injury (AKI), chronic kidney disease (CKD), and congenital anomalies of the kidney and urinary tract (CAKUT). The kidneys, second only to the heart in mitochondrial density, rely on oxidative phosphorylation to meet the high ATP demands of solute reabsorption and filtration. Disrupted mitochondrial dynamics, such as excessive fission mediated by Drp1, exacerbate tubular apoptosis and inflammation in AKI models like ischemia-reperfusion injury. In CKD, persistent mitochondrial dysfunction drives oxidative stress, fibrosis, and metabolic reprogramming, with epigenetic mechanisms (DNA methylation, histone modifications, non-coding RNAs) regulating genes critical for mitochondrial homeostasis, such as and . Epigenetic dysregulation also impacts mitochondrial-ER crosstalk, influencing calcium signaling and autophagy in renal pathology. Mitophagy, the selective clearance of damaged mitochondria, plays a dual role in kidney disease. While PINK1/Parkin-mediated mitophagy protects against cisplatin-induced AKI by preventing mitochondrial fragmentation and apoptosis, its dysregulation contributes to fibrosis and CKD progression. For instance, macrophage-specific loss of mitophagy regulators like MFN2 amplifies ROS production and fibrotic responses. Conversely, BNIP3/NIX-dependent mitophagy attenuates contrast-induced AKI by suppressing NLRP3 inflammasome activation. In diabetic nephropathy, impaired mitophagy correlates with declining eGFR and interstitial fibrosis, highlighting its diagnostic and therapeutic potential. Emerging therapeutic strategies target mitochondrial dysfunction through antioxidants (e.g., MitoQ, SS-31), mitophagy inducers (e.g., COPT nanoparticles), and mitochondrial transplantation, which mitigates AKI by restoring bioenergetics and modulating inflammatory pathways. Nanotechnology-enhanced drug delivery systems, such as curcumin-loaded nanoparticles, improve renal targeting and reduce oxidative stress. Epigenetic interventions, including PPAR-α agonists and KLF4 modulators, show promise in reversing metabolic reprogramming and fibrosis. These advances underscore mitochondria as central hubs in renal pathophysiology. Tailored interventions-ranging from Drp1 inhibition to mitochondrial transplantation-hold transformative potential to mitigate kidney injury and improve clinical outcomes. Additionally, dietary interventions and novel regulators such as adenogens are emerging as promising strategies to modulate mitochondrial function and attenuate kidney disease progression. Future research should address the gaps in understanding the role of mitophagy in CAKUT and optimize targeted delivery systems for precision therapies. - Source: PubMed
Publication date: 2025/05/28
Pavlović NikolaKrižanac MarinelaKumrić MarkoVukojević KatarinaBožić Joško - Sound sensitivity is a common sensory complaint for people with autism spectrum disorder (ASD). How and why sounds are perceived as overwhelming by affected people is unknown. To process sound information properly, the brain requires high activity and fast processing, as seen in areas like the medial nucleus of the trapezoid body (MNTB) of the auditory brainstem. Recent work has shown dysfunction in mitochondria in a genetic model of ASD, Fragile X Syndrome (FXS). Whether mitochondrial functions are also altered in sound-processing neurons has not been characterized yet. To address this question, we imaged MNTB in a mouse model of FXS. We stained MNTB brain slices from wild-type and FXS mice with two mitochondrial markers, TOMM20 and PMPCB, located on the outer mitochondrial membrane and in the matrix, respectively. Our imaging reveals significant sex-specific differences between genotypes. Colocalization analyses between TOMM20 and PMPCB show that the integrity of mitochondrial subcompartments is most disrupted in female FXS mice compared with female wild-type mice. We highlight a quantitative fluorescence microscopy pipeline to monitor mitochondrial functions in the MNTB from control or FXS mice and provide four complementary readouts, paving the way to understanding how cellular mechanisms important to sound encoding are altered in ASD. - Source: PubMed
Publication date: 2025/05/14
Caron ClaireMcCullagh Elizabeth AnneBertolin Giulia - Sound sensitivity is one of the most common sensory complaints for people with autism spectrum disorders (ASDs). How and why sounds are perceived as overwhelming by affected people is unknown. To process sound information properly, the brain requires high activity and fast processing, as seen in areas like the medial nucleus of the trapezoid body (MNTB) of the auditory brainstem. Recent work has shown dysfunction in mitochondria, which are the primary source of energy in cells, in a genetic model of ASD, Fragile X syndrome (FXS). Whether mitochondrial functions are also altered in sound-processing neurons, has not been characterized yet. To address this question, we imaged the MNTB in a mouse model of FXS. We stained MNTB brain slices from wild-type and FXS mice with two mitochondrial markers, TOMM20 and PMPCB, located on the Outer Mitochondrial Membrane and in the matrix, respectively. These markers allow exploration of mitochondrial subcompartments. Our integrated imaging pipeline reveals significant sex-specific differences between genotypes. Colocalization analyses between TOMM20 and PMPCB reveal that the integrity of mitochondrial subcompartments is most disrupted in female FXS mice compared to female wildtype mice. We highlight a quantitative fluorescence microscopy pipeline to monitor mitochondrial functions in the MNTB from control or FXS mice and provide four complementary readouts. Our approach paves the way to understanding how cellular mechanisms important to sound encoding are altered in ASDs. - Source: PubMed
Publication date: 2024/08/29
Caron ClaireMcCullagh Elizabeth ABertolin Giulia