Investigating heterochromatin distribution in laminopathies model cell line.

Chromatin architecture and genome regulation are crucial in maintaining cell physiology. However, even a single variation in the genomic code can induce alterations leading to different pathologies. In particular, we focus on a model for laminopathies disease, Hutchinson-Gilford Progeria Syndrome, HGPS, in which the patient ages rapidly from the first two years of life. HGPS is induced by a single mutation of lamin A gene resulting in inappropriate processing of its related protein. The lamin A is one of the nuclear lamina components, and it has the following roles: chromatin scaffold and somehow regulates cellular processes (transcription, replication, repair). Therefore, its mutation can cause massive damage to the cells. Our work is focused on exploiting super-resolution microscopy to investigate heterochromatin organization in HGPS. More in detail, we aim to investigate how lamin A mutation affects the peripheral organization of chromatin, thus we perform multicolor colocalization analysis of heterochromatin and lamina-associated proteins. Our single-cell approach could lead to a deeper understanding of the starting events associated with Hutchinson-Gilford Progeria Syndrome.