据加拿大国立卫生研究院（CIHR）报道，渥太华心脏研究所科研人员近期在人肌肉和大脑细胞核中发现了一个影响心脏发育和衰老的重要基因-------肌肉富集A类核纤层交互作用蛋白基因（MLIP）。通过对该基因工作机理的进一步研究，可以让人们更好地了解心脏病的发病原理，为心脏病的治疗提供新的方法。这项CIHR资助的研究成果已经发表在《生物化学期刊》（Journal of Biological Chemistry）上。（生物谷Bioon.com）
生物谷推荐原文出处：
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.
