Generation of heterozygous fibrillin-1 mutant cloned pigs from genome-edited foetal fibroblasts

Kazuhiro Umeyama, Kota Watanabe, Masahito Watanabe, Keisuke Horiuchi, Kazuaki Nakano, Masateru Kitashiro, Hitomi Matsunari, Tokuhiro Kimura, Yoshimi Arima, Oltea Sampetrean, Masaki Nagaya, Masahiro Saito, Hideyuki Saya, Kenjiro Kosaki, Hiroshi Nagashima, Morio Matsumoto

研究成果: Article査読

23 被引用数 (Scopus)


Marfan syndrome (MFS) is an autosomal dominant genetic disease caused by abnormal formation of the extracellular matrix with an incidence of 1 in 3, 000 to 5, 000. Patients with Marfan syndrome experience poor quality of life caused by skeletal disorders such as scoliosis, and they are at high risk of sudden death from cardiovascular impairment. Suitable animal models of MFS are essential for conquering this intractable disease. In particular, studies employing pig models will likely provide valuable information that can be extrapolated to humans because of the physiological and anatomical similarities between the two species. Here we describe the generation of heterozygous fibrillin-1 (FBN1) mutant cloned pigs (+/Glu433AsnfsX98) using genome editing and somatic cell nuclear transfer technologies. The FBN1 mutant pigs exhibited phenotypes resembling those of humans with MFS, such as scoliosis, pectus excavatum, delayed mineralization of the epiphysis and disrupted structure of elastic fibres of the aortic medial tissue. These findings indicate the value of FBN1 mutant pigs as a model for understanding the pathogenesis of MFS and for developing treatments.

ジャーナルScientific reports
出版ステータスPublished - 2016 4月 14

ASJC Scopus subject areas

  • 一般


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