加拿大渥太华大学心脏研究所研究人员最近发现了一种可以影响心脏发展及老化过程的新基因，为治疗心脏老化及病变带来新希望。
渥太华大学分子生物学家伯尔更（Patrick Burgon）带队的研究团队从胎儿心脏研究开始，了解心脏老化、成长及衰竭过程中所发生的各种变化，发现了存在于肌肉及脑细胞的细胞核中的基因可能掌控着其它对心脏发展有重要关联的基因。研究人员将这一基因命名为MLIP（Muscle enriched A-type Lamin Interacting Protein），相信这种基因的突变，与肌肉营养失调及其他心脏退化疾病有关。这一发现在6月的《生物化学期刊》（Journal of Biological Chemistry）上发表。研究人员将通过进一步了解MLIP基因的功能，弄清楚心脏如何失去功能。伯尔更教授表示，这次发现为了解心脏发展过程中的各个特性开启了新道路。（生物谷Bioon.com）
生物谷推荐原文出处：
Journal of Biological Chemistry
Identification of a Novel Muscle A-type Lamin-interacting Protein (MLIP)*
Elmira Ahmady, Shelley A. Deeke, Seham Raba, 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.
