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C-terminus truncation of Seipin as a good potential sign of diseases
Wei-Li Yu and Yun Sun
Seipin is a transmembrane protein of the endoplasmic reticulum with N, C-terminus residing the intracytoplasmic side.1 2 Loss of Seipin function has been shown to lead to severe lipodystrophy, motor neuropathy and silver syndrome.3 However, its molecular mechanism is still unknown. Recently Guillén-Navarro E et al 4...
Seipin is a transmembrane protein of the endoplasmic reticulum with N, C-terminus residing the intracytoplasmic side.1 2 Loss of Seipin function has been shown to lead to severe lipodystrophy, motor neuropathy and silver syndrome.3 However, its molecular mechanism is still unknown. Recently Guillén-Navarro E et al 4 indicated that complete skipping of exon 7 was associated with a new neurodegenerative syndrome. The mutation caused early termination, resulting in C-terminally truncated proteins p.Tyr289LeufsX64. It demonstrated that C-terminus of Seipin played a key role in the pathogenesis of this new neurological disease. This result suggests that C-terminus truncation of Seipin might be a good potential prediction of this disease.
Other studies have been carried with the similar aim. Van Maldergem et al 5 had reported that C-terminus deficiency of Seipin due to kipping of exon 7 caused a case of severe psychomotor delay and pyramidal signs. These mutations were associated with intellectual impairment. Furthermore, Yang W et al 6 found that C-terminus truncated proteins such as R275X and Q391X, led to lipodystrophy. It indicated that C-terminus of Seipin could regulate lipogenesis and adipogenesis. In addition, Yang W et al 7 identified that C-terminus of Seipin interacted with 14-3-3β, which patiotemporally recruited an interacting partner of actin-severing protein cofilin-1 during adipocyte differentiation. They proposed that C-terminus of Seipin might regulate adipogenesis by recruiting cofilin-1 to remodel actin cytoskeleton through the 14-3-3β protein.
These findings suggest that C-terminus truncation of Seipin may be a potential sign of diseases such as lipodystrophy, psychomotor delay and neurological diseases. We greatly enjoyed reading the article by Guillén-Navarro E et al and believe C-terminus truncation of Seipin may be useful for prediction of diseases.
The authors declare no conflict of interest.
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