当前位置: X-MOL 学术Nucleus › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Lipodystrophic laminopathies: Diagnostic clues
Nucleus ( IF 2.7 ) Pub Date : 2018-04-16 , DOI: 10.1080/19491034.2018.1454167
Cristina Guillín-Amarelle 1 , Antía Fernández-Pombo 1 , Sofía Sánchez-Iglesias 1 , David Araújo-Vilar 1
Affiliation  

ABSTRACT The nuclear lamina is a complex reticular structure that covers the inner face of the nucleus membrane in metazoan cells. It is mainly formed by intermediate filaments called lamins, and exerts essential functions to maintain the cellular viability. Lamin A/C provides mechanical steadiness to the nucleus and regulates genetic machinery. Laminopathies are tissue-specific or systemic disorders caused by variants in LMNA gene (primary laminopathies) or in other genes encoding proteins which are playing some role in prelamin A maturation or in lamin A/C function (secondary laminopathies). Those disorders in which adipose tissue is affected are called laminopathic lipodystrophies and include type 2 familial partial lipodystrophy and certain premature aging syndromes. This work summarizes the main clinical features of these syndromes, their associated comorbidities and the clues for the differential diagnosis with other lipodystrophic disorders.

中文翻译:


脂肪营养不良核纤层病:诊断线索



摘要 核层是后生动物细胞中覆盖核膜内表面的复杂网状结构。它主要由称为核纤层蛋白的中间丝形成,并发挥维持细胞活力的重要功能。核纤层蛋白 A/C 为细胞核提供机械稳定性并调节遗传机制。核纤层蛋白病是由 LMNA 基因(原发性核纤层蛋白病)或编码在前核纤层蛋白 A 成熟或核纤层蛋白 A/C 功能(继发性核纤层蛋白病)中发挥一定作用的其他蛋白质的变异引起的组织特异性或全身性疾病。那些影响脂肪组织的疾病称为核纤层蛋白病性脂肪营养不良,包括 2 型家族性部分脂肪营养不良和某些早衰综合征。这项工作总结了这些综合征的主要临床特征、相关合并症以及与其他脂肪营养不良性疾病鉴别诊断的线索。
更新日期:2018-04-16
down
wechat
bug