據(jù)加拿大國立衛(wèi)生研究院（CIHR）報道,，渥太華心臟研究所科研人員近期在人肌肉和大腦細胞核中發(fā)現(xiàn)了一個影響心臟發(fā)育和衰老的重要基因-------肌肉富集A類核纖層交互作用蛋白基因（MLIP）,。通過對該基因工作機理的進一步研究，可以讓人們更好地了解心臟病的發(fā)病原理,，為心臟病的治療提供新的方法,。這項CIHR資助的研究成果已經(jīng)發(fā)表在《生物化學期刊》（Journal of Biological Chemistry）上。（生物谷Bioon.com）
生物谷推薦原文出處：
Journal of Biological Chemistry DOI：10.1074/jbc.M110.165548
Identification of a Novel Muscle A-type Lamin-interacting Protein (MLIP)
Elmira Ahmady1, Shelley A. Deeke1, Seham Rabaa, Lara Kouri, Laura Kenney, Alexandre F. R. Stewart and Patrick G. Burgon
Mutations in the A-type lamin (LMNA) gene are associated with age-associated degenerative disorders of mesenchymal tissues, such as dilated cardiomyopathy, Emery-Dreifuss muscular dystrophy, and limb-girdle muscular dystrophy. The molecular mechanisms that connect mutations in LMNA with different human diseases are poorly understood. Here, we report the identification of a Muscle-enriched A-type Lamin-interacting Protein, MLIP (C6orf142 and 2310046A06rik), a unique single copy gene that is an innovation of amniotes (reptiles, birds, and mammals). MLIP encodes alternatively spliced variants (23–57 kDa) and possesses several novel structural motifs not found in other proteins. MLIP is expressed ubiquitously and most abundantly in heart, skeletal, and smooth muscle. MLIP interacts directly and co-localizes with lamin A and C in the nuclear envelope. MLIP also co-localizes with promyelocytic leukemia (PML) bodies within the nucleus. PML, like MLIP, is only found in amniotes, suggesting that a functional link between the nuclear envelope and PML bodies may exist through MLIP. Down-regulation of lamin A/C expression by shRNA results in the up-regulation and mislocalization of MLIP. Given that MLIP is expressed most highly in striated and smooth muscle, it is likely to contribute to the mesenchymal phenotypes of laminopathies.
