APBA1
- Known as:
- APBA1
- Catalog number:
- 001737A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- APBA1
Related genes to: APBA1
- Gene:
- APBA1 NIH gene
- Name:
- amyloid beta precursor protein binding family A member 1
- Previous symbol:
- MINT1
- Synonyms:
- D9S411E, X11
- Chromosome:
- 9q21.12
- Locus Type:
- gene with protein product
- Date approved:
- 1997-06-25
- Date modifiied:
- 2016-01-21
Related products to: APBA1
Related articles to: APBA1
- BACKGROUND: Severe, early-onset obesity is a monogenic disorder in a subset of patients. Recently, rare protein-truncating variants (PTVs) in BSN and APBA1 have been implicated as monogenic causes of obesity. Truncating variants in these two genes have been associated with adult-onset monogenic obesity. Here, we aimed to investigate the occurrence of rare PTVs in APBA1 and BSN in minors with severe obesity manifesting in early childhood or adolescence. METHODS: Previously obtained exome data of 209 children and adolescents (0–18 years) with severe obesity manifesting in early childhood or adolescence genetically tested at the Ulm University Medical Center between April 2022 and May 2024 were mined for rare PTVs in APBA1 (NM_ 001163.4; NP_ NP_001154.2) and BSN (NM_003458.4; NP_003449.2). In all patients, monoallelic, and in the case of autosomal-recessive inheritance, biallelic likely pathogenic and pathogenic variants in well-known obesity-associated genes were excluded. Clinical re-evaluation was performed in two identified cases with rare potentially protein-truncating variants in APBA1. RESULTS: The first patient (male, 15 years) presented with a BMI of 33.7 kg/m2 (BMI z-score: 2.7) after nine years of excessive weight gain despite life-style interventions. He had a body fat percentage of 49.5% and showed hyperphagia. The patient displayed impaired expressive language development, dyslexia and an IQ of 84. His mother also had obesity and dyslexia while his father and younger sister were unaffected. We identified the heterozygous, likely pathogenic variant APBA1:c.814C > T;p.(Gln272*) in the index patient and his mother. The second patient (male, 6 years) presented with a BMI of 30.0 kg/m2 (BMI z-score: 3.8), a body fat percentage of 43.6% and hyperphagia. The child had upslanting palpebral fissures and showed impaired expressive language development. Both parents of the boy were affected by severe obesity and underwent bariatric surgery. We identified the heterozygous variant of unknown significance APBA1:c.2442 + 3A > C predicted to impair proper splicing in the index patient and his mother. CONCLUSION: We conclude that rare potentially protein-truncating variants in APBA1 are also found in some minors with early-onset and severe obesity. Therefore, those variants might not be restricted to adult-onset disease. We therefore propose to include APBA1 in diagnostic genetic testing for monogenic obesity in minors and adults. - Source: PubMed
Publication date: 2026/04/22
Lerner JoannaMoawia AbubakarZorn StefanieKloker SimoneKlehr-Martinelli MargitWinner KayPenfold DenisaVölkl Thomas M KKrausnick MiriamSiebert ReinerWabitsch Martin - In fishes and aquatic-stage amphibians, mechanosensory neuromasts are arranged in characteristic lines in the skin of the head and trunk, with afferent innervation from anterior or posterior lateral line nerves. In electroreceptive non-teleost jawed fishes and amphibians, fields of electrosensory ampullary organs flank some or all of the cranial neuromast lines, innervated by the anterior lateral line nerve. Like the mechanosensory hair cells found in neuromasts and the inner ear, electroreceptor cells in ampullary organs across vertebrates form specialised ribbon synapses with afferent nerve terminals. Ribbon synapses in hair cells are distinct from other glutamatergic synapses, including the ribbon synapses in photoreceptors: In hair cells, synaptic vesicles are loaded with glutamate by vGlut3 and otoferlin is the Ca sensor for synaptic vesicle exocytosis. We previously showed that the genes encoding vGlut3 and otoferlin are expressed by ampullary organs as well as neuromasts in a chondrostean ray-finned fish, the Mississippi paddlefish (Polyodon spathula), suggesting that electroreceptor ribbon synapses are very similar to those in hair cells. In this study, we selected additional synapse-related candidate genes from our previously published dataset of putatively lateral line organ-enriched genes from late-larval paddlefish, and examined their expression in developing lateral line organs in a more experimentally tractable chondrostean, the sterlet sturgeon (Acipenser ruthenus). We found that sterlet ampullary organs express genes encoding vGlut3 (as expected from paddlefish) and the high-affinity glutamate re-uptake transporter EAAT1 (GLAST). Sterlet ampullary organs also express Otof (also expected from paddlefish, though we identified one Otof transcript variant maintained in ampullary organs but not neuromasts) and two other hair cell synapse-associated genes, Apba1 (Mint1) and Rab3a. Genes encoding the presynaptic cell adhesion molecule Nrxn3, the calcium-independent synaptotagmin Syt14, the calmodulin regulator protein PCP4 (PEP-19) and cell adhesion molecule DSCAML1 were expressed in both neuromasts and ampullary organs. In contrast, Cbln18, encoding a secreted trans-synaptic scaffolding protein, was only expressed in neuromasts and Tulp1, encoding tubby-related protein 1 (required for the development and function of photoreceptor ribbon synapses), was only expressed in ampullary organs. Overall, our results support electroreceptor ribbon synapses in non-teleost ray-finned bony fish being glutamatergic and suggest further commonalities, but also some differences, with hair cell ribbon synapses. - Source: PubMed
Publication date: 2025/11/21
Campbell Alexander SMinařík MartinBuckley DavidAnand TanmayGela DavidPšenička MartinBaker Clare V H - microRNA-4284 is associated with various diseases, but its role in Alzheimer's disease remains unclear. This study explores the therapeutic potential of miR-4284 inhibition by targeting the APBA1 and the JAK/STAT3 pathways in AD models. - Source: PubMed
Publication date: 2025/10/31
Choi JiyunHwang JinsuKim DoheeJang EunjaeJang GeupilCho Hyong-HoKim Byeong CJeong Han-SeongJang Sujeong - Gene discoveries in obesity have largely relied on homogeneous populations, limiting their generalizability across ancestries. Here, we conduct a gene-based rare variant association study of BMI on 839,110 individuals from six ancestries across two population-scale biobanks. A cross-ancestry meta-analysis identifies 13 genes, including YLPM1, RIF1, GIGYF1, SLC5A3, and GRM7, that confer about three-fold risk for severe obesity, are expressed in the brain and adipose tissue, and are linked to obesity traits such as body-fat percentage. While YLPM1, MC4R, and SLTM show consistent effects, GRM7 and APBA1 show significant ancestral heterogeneity. Polygenic risk additively increases obesity penetrance, and phenome-wide studies reveal additional associations, including YLPM1 with altered mental status. These genes also influence cardiometabolic comorbidities, including GIGYF1 and SLTM towards type 2 diabetes with or without BMI as a mediator, and altered levels of plasma proteins, such as LECT2 and NCAN, which in turn affect BMI. Our findings provide insights into the genetic basis of obesity and its related comorbidities across ancestries and ascertainments. - Source: PubMed
Publication date: 2025/10/30
Banerjee DeeproGirirajan Santhosh - Obesity is an epidemic that currently impacts many nations. The persistence of this disease is shaped by both genetic and epigenetic factors that extend beyond calorie balance. Research in the past year has revealed that epigenetic and cellular memory within adipose tissue can predispose individuals to weight regain after initial fat loss, as shown by studies indicating persistent transcriptional and chromatin changes even after fat mass reduction. Independent studies also demonstrate long-lasting metabolic shifts, such as those triggered by glucose-dependent insulinotropic polypeptide receptor (GIPR)-induced thermogenesis and sarcolipin (SLN) stabilization that also support a form of "metabolic memory" that is associated with sustained weight loss. At the neural level, rare variants in synaptic genes like (Bassoon presynaptic cytomatrix protein), a presynaptic scaffold protein, and (amyloid beta precursor protein binding family A member 1), a neuronal adaptor involved in vesicular trafficking, disrupt communication in feeding circuits, elevating obesity risk and illustrating how synaptic integrity influences food intake regulation. Similarly, the spatial compartmentalization of metabolic signaling within neuronal cilia is emerging as crucial, with cilia-localized receptors G protein-coupled receptor 75 (GPR75) and G protein-coupled receptor 45 (GPR45) exerting opposing effects on energy balance and satiety. Meanwhile, genome-wide association studies (GWAS) have advanced through larger, more diverse cohorts and better integration of environmental and biological data. These studies have identified novel obesity-related loci and demonstrated the value of polygenic risk scores (PRS) in predicting treatment responses. For example, genetic variants in (glucagon-like peptide-1 receptor) and (glucose-dependent insulinotropic polypeptide receptor) may modulate the effectiveness of incretin-based therapies, while PRS for satiation can help match individuals to the most appropriate anti-obesity medications. This review focuses on studies in the last two years that highlight how advances in obesity genetics are driving a shift toward more personalized and mechanism-based treatment strategies. - Source: PubMed
Publication date: 2025/08/27
Yoo Lindsey GBordelon Courtney LMendoza DavidStephens Jacqueline M