Ask about this productRelated genes to: BSCL2 antibody
- Gene:
- BSCL2 NIH gene
- Name:
- BSCL2 lipid droplet biogenesis associated, seipin
- Previous symbol:
- GNG3LG, SPG17
- Synonyms:
- seipin
- Chromosome:
- 11q12.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-07-02
- Date modifiied:
- 2019-04-23
Related products to: BSCL2 antibody
Related articles to: BSCL2 antibody
- Congenital generalized lipodystrophy type 2 is a rare autosomal recessive disorder caused by mutation in the BSCL2 gene. Here we report a novel variant (NM_001122955.4:c.828_835dup p.(Arg279ProfsTer21)) in an 18-year-old female with congenital generalized lipodystrophy type 2. The patient presented with severe lipoatrophy, muscular hypertrophy and insulin resistance. This frameshift variant introduces a premature stop codon, probably triggering nonsense-mediated decay. This finding expands the BSCL2 mutational spectrum and highlights the importance of genetic analysis in consanguineous populations. - Source: PubMed
Publication date: 2026/05/04
Bazmi HadiJabbarpour NedaAsghari Asma AlizadehBonaydi MortezaMotamedi AkramBarzegar Mohammad - Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by significant cognitive decline and memory impairment. This condition imposes a considerable economic burden on healthcare systems worldwide. - Source: PubMed
Publication date: 2026/02/11
An XiaoqiongWang YijiaCao ManniYi ZhenzhenZeng XiangguangYu WenfengRen Zhenkui - Background Lipodystrophies are rare disorders characterized by loss of adipose tissue, leading to severe metabolic and multisystem complications. Data on real-world management remain limited, particularly in Portugal. Objectives The objective of this study is to describe the clinical, metabolic, genetic, and therapeutic characteristics of patients with confirmed or suspected lipodystrophy followed at a Portuguese Endocrinology Outpatient Clinic. Methods We conducted a retrospective observational study including 21 patients with clinical suspicion or diagnosis of lipodystrophy. Demographic, clinical, laboratory, imaging, and genetic data were collected. Results The cohort was predominantly female (90.5%) with a median age at diagnosis of 49 years. Sixteen patients (76.2%) had familial partial lipodystrophy (FPLD), two (9.5%) had congenital generalized lipodystrophy, two (9.5%) had acquired generalized lipodystrophy, and one presented a complex syndromic form. Diabetes mellitus was present in 71.4% of patients and hypertriglyceridemia in 52.4%. Metabolic liver disease occurred in both generalized and partial forms. Autoimmune disorders affected 31.6% of patients, and cardiac involvement was observed in 23.8%. Genetic testing identified pathogenic or likely pathogenic variants in and in three patients, while most FPLD cases remained genetically unexplained. Metreleptin therapy in three patients with generalized lipodystrophy improved glycemic control, triglycerides, liver enzymes, and proteinuria. Dual-energy X-ray absorptiometry imaging supported the phenotypic characterization of adipose tissue loss. Conclusions Detailed physical examination, genetic testing, imaging, and early therapeutic interventions are critical for management. These findings align with European registry data and highlight the need for increased awareness and systematic evaluation in real-world clinical practice. - Source: PubMed
Publication date: 2026/02/17
Barbosa RenataPinheiro Ana TBorges TeresaSilva Ermelinda SSilva Jorge DiogoSoares Ana RitaCarvalho RuiFonseca Liliana - Berardinelli-Seip syndrome, also known as congenital generalized lipodystrophy (CGL), is a rare genetic disorder characterized by lipoatrophy, acromegaloid features, hyperinsulinemia, hypertriglyceridemia, and hepatic steatosis. With estimated prevalence 1 in every 10,000,000 births, CGL challenges medical specialists to seek better ways for early diagnosis of the disease. Despite its rarity, the condition is associated with severe metabolic and cardiovascular complications, leading to significant morbidity and reduced life expectancy. Advances in molecular genetics have identified mutations in AGPAT2, BSCL2, CAV1, and PTRF, which provide important insights into adipose tissue biology and systemic metabolism. Early recognition and genetic confirmation are crucial to initiate timely interventions, including lifestyle modification, insulin sensitizers, and lipid-lowering therapies including metreleptin therapy in indicated cases. Two illustrative cases are presented, reflecting our experience with the clinical variability, genetic findings, and therapeutic strategies in CGL as well as highlighting the importance of comprehensive care and emerging therapies. - Source: PubMed
Yordanova Savelia GavrailovaTodorova ZdravkaGateva AntoanetaKaramfilova VeraArchinkova MargaritaKamenov ZdravkoAssyov Yavor - The N88S mutation in human seipin causes a dominant motor neuron disease marked by ER stress and inclusion body formation, lipid imbalance, and oxidative damage. However, the metabolic mechanisms connecting these defects remain poorly understood. Previous proteomic profiling in our yeast model of N88S human seipinopathy revealed decreased protein levels of enzymes involved in the tricarboxylic acid cycle, fatty acid and carboxylic acid metabolism, and the glyoxylate cycle, suggesting impaired downstream utilization of peroxisome-derived acetyl-CoA. Guided by these findings, we investigated how peroxisomal function contributes to cellular dyshomeostasis. N88S seipin-expressing cells exhibited increased peroxisome abundance but defective routing of acetyl-CoA into mitochondrial and glyoxylate pathways, resulting in elevated reactive oxygen species (ROS), impaired glyoxylate cycle activation, and reduced metabolic adaptability to non-fermentable carbon sources. Loss of peroxisomes or forced cytosolic redirection of acetyl-CoA further exacerbated ER stress, ROS accumulation, lipid peroxidation, and the growth defect on N88S seipin-expressing cells, whereas inhibition of fatty acid synthesis mitigated oxidative damage. These findings demonstrate that N88S seipin triggers a futile cycle in which misrouted cytosolic acetyl-CoA drives lipogenesis, amplifying oxidative damage and ER stress. We conclude that defective peroxisome-mitochondria metabolic coupling and acetyl-CoA misrouting may represent central pathogenic mechanisms driving cellular dysfunction in N88S-linked seipinopathy. - Source: PubMed
Publication date: 2026/02/24
Moreira Vítorvan Roermund Carlo W TCosta VítorTeixeira Vitor