Human iPSC-Derived Muscle Cells as a New Model for Investigation of EDMD1 Pathogenesis.

Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the gene, which encodes the nuclear envelope protein emerin. Despite understanding the genetic basis of the disease, the molecular mechanism underlying muscle and cardiac pathogenesis remains elusive. Progress is restricted by the limited availability of patient-derived samples; therefore, there is an urgent need for human-specific cellular models.

Hutchinson-Gilford Progeria Syndrome-Current Status and Prospects for Gene Therapy Treatment.

Hutchinson-Gilford progeria syndrome (HGPS) is one of the most severe disorders among laminopathies-a heterogeneous group of genetic diseases with a molecular background based on mutations in the gene and genes coding for interacting proteins. HGPS is characterized by the presence of aging-associated symptoms, including lack of subcutaneous fat, alopecia, swollen veins, growth retardation, age spots, joint contractures, osteoporosis, cardiovascular pathology, and death due to heart attacks and strokes in childhood. codes for two major, alternatively spliced transcripts, give rise to lamin A and lamin C proteins.