LMNA基因突变相关脂肪萎缩综合征的研究进展

doi:10.16288/j.yczz.22-225

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Hereditas(Beijing) ›› 2022, Vol. 44 ›› Issue (10): 913-925.doi: 10.16288/j.yczz.22-225

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Advances in lipodystrophy syndrome caused by LMNA gene mutation

Cheng Xiao¹(), Jieying Liu^1,², Chunru Yang¹, Miao Yu¹()

1. Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China
2. Medical Research Center, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100730, China

Received:2022-06-30 Revised:2022-09-06 Online:2022-10-20 Published:2022-09-20
Contact: Yu Miao E-mail:jz_xiaocheng@163.com;yumiaoxh@163.com
Supported by:
the National Nature Science Foundation of China(82170855);the National Key Research and Development Program(2020YFC2004505);the National Key Research and Development Program(2018YFC2001105)

Abstract

Abstract:

Lipodystrophy syndrome caused by LMNA gene mutation is a group of autosomal dominant monogenic diseases, characterized by selective fat loss and metabolic abnormalities with insulin resistance. In this review, we summarize the clinical manifestations caused by multiple pathogenic LMNA mutations reported so far, including metabolic complications, cardiovascular abnormalities, gonadal axis disorders, myopathy, and renal abnormalities. Meanwhile, we also clarify the possible pathogenic mechanism, diagnosis, and treatment, in order to improve the understanding of the disease and to provide a reference for basic research and clinical diagnosis and treatment of this disease.

Key words: lipodystrophy syndrome, LMNA gene mutation, insulin resistance, metabolic disorders, pathogenic mechanisms

Cheng Xiao, Jieying Liu, Chunru Yang, Miao Yu. Advances in lipodystrophy syndrome caused by LMNA gene mutation[J]. Hereditas(Beijing), 2022, 44(10): 913-925.

Figures/Tables 5

Fig. 1

Table 1

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Fig. 2

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