Age related diseases

Maria Vittoria Schiaffino

Maria Vittoria Schiaffino

Location: DIBIT2 A2, Floor 4, Room 44

Research associate, Age related disease Unit

Mammalian cells contain a specific repertoire of membrane-bound organelles that are essential for their survival and role within the organism. The biogenesis, motility, signaling and intracellular connections of these organelles is required for their proper function and, when altered, can result in a variety of human diseases.

My research activity focuses on the mechanisms underlying these processes by studying the molecular pathogenesis of ocular albinism type 1, a genetic disorder characterized by visual impairment and by abnormalities of melanosomes, a special type of lysosome-related organelles, devoted to the synthesis and transport of melanin in pigment cells. In fact, loss-of-function of the ocular albinism gene OA1, encoding a unique G protein-coupled receptor localized to melanosomes, results in aberrant size, number and distribution of the organelles.

Recent findings of this Unit indicate that the proper biogenesis of melanosomes requires both tight juxtaposition with mitochondria, through fibrillar bridges resembling the protein tethers linking mitochondria and endoplasmic reticulum, and dedicated transcriptional programs, regulated by the microphthalmia family of transcription factors. A second line of research is focused on the cellular adaptations to nutrient restriction, including long-term epigenetic and transcriptional modifications.