Investigating heterochromatin distribution in laminopathies model cell line.
Cainero I., Usai C., Baldini F., Bianchini P., Lanzanò L., Diaspro A.
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.