TOR1AIP1-Associated Nuclear Envelopathies

• Published in: International journal of molecular sciences Vol. 24; no. 8; p. 6911
• Main Authors: Mackels, Laurane, Liu, Xincheng, Bonne, Gisèle, Servais, Laurent
• Format: Journal Article Web Resource
• Language: English
• Published: Switzerland MDPI 07.04.2023; Multidisciplinary Digital Publishing Institute (MDPI)
• Subjects: Catalysis; clinical spectrum; Computer Science Applications; Cytoskeletal Proteins; Cytoskeletal Proteins - metabolism; Genetics; Human genetics; Human health sciences; Humans; inner nuclear membrane; Inorganic Chemistry; lamina-associated polypeptide 1B; lamina-associated polypeptide 1C; lamina-associated protein 1; LAP1; LAP1B; LAP1C; Life Sciences; Membrane Proteins; Membrane Proteins - metabolism; Molecular Biology; Muscular Dystrophies; Muscular Dystrophies - metabolism; Mutation; mutations; Nuclear Envelope; Nuclear Envelope - metabolism; Nuclear Proteins; Nuclear Proteins - genetics; Nuclear Proteins - metabolism; Organic Chemistry; Pediatrics; Physical and Theoretical Chemistry; Pédiatrie; Review; Sciences de la santé humaine; Spectroscopy; TOR1AIP1; TOR1AIP1 protein, human; LAP1C; lamina-associated polypeptide 1B; LAP1B; lamina-associated protein 1; lamina-associated polypeptide 1C; mutations; LAP1; clinical spectrum; TOR1AIP1; inner nuclear membrane
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms24086911

Human TOR1AIP1 encodes LAP1, a nuclear envelope protein expressed in most human tissues, which has been linked to various biological processes and human diseases. The clinical spectrum of diseases related to mutations in TOR1AIP1 is broad, including muscular dystrophy, congenital myasthenic syndrome, cardiomyopathy, and multisystemic disease with or without progeroid features. Although rare, these recessively inherited disorders often lead to early death or considerable functional impairment. Developing a better understanding of the roles of LAP1 and mutant TOR1AIP1-associated phenotypes is paramount to allow therapeutic development. To facilitate further studies, this review provides an overview of the known interactions of LAP1 and summarizes the evidence for the function of this protein in human health. We then review the mutations in the TOR1AIP1 gene and the clinical and pathological characteristics of subjects with these mutations. Lastly, we discuss challenges to be addressed in the future.