Cure SMA Awards $140,000 To Francesco Lotti From Columbia University

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by Isaura Santos |

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Francesco Lotti, PhD from Columbia University was recently awarded $140,000 in funding from Cure SMA to support the researcher’s current project, entitled “Role of Sumoylation in SMN Function and SMA Pathology.”

SMN, which stands for “survival motor neuron,” is a protein crucial to the functioning of the nerves that are responsible for controlling the body’s muscles. Those who suffer with spinal muscular atrophy (SMA) do not adequately produce normal levels of the SMN protein. Therefore, scientists are working to better understand the mechanisms behind the protein and the ways that it impacts those with SMA, specifically in terms of how other cells and tissues respond to SMN protein loss.

Francesco Lotti is focused on modeling human diseases in order to discover their pathological mechanisms. He has studied regulatory gene expression mechanisms, and in particular has dedicated his work to identifying and designing therapeutic interventions for these diseases based on his discoveries, using both cell and animal models and uses several cell, molecular and biochemical biological methodologies in his research.

Dr. Lotti’s Cure SMA-funded research project will address post translational modifications (PMTs) that occur after SMN protein creation, and assess the effects that these modifications have on those with SMA.

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“Since 2003, I have been studying SMA and the functions of the disease gene product SMN. As a postdoc in the Dreyfuss’ laboratory at the University of Pennsylvania, I contributed to the discovery that SMN deficiency results in changes to the cell’s splicing machinery, particularly to a cellular complex called small ribonuclear proteins. More recently as a Junior Faculty at Columbia University, I identified splicing events caused by the loss of SMN that are essential for motor neuron function, and I have directly linked their disruption to dysfunction in animal models of SMA. These findings revealed disruption of splicing as one mechanism contributing to SMA pathology,” said Lotti in a press release.

Dr. Lotti’s work is focused on studying the downstream events and modifications that happen during the RNA splicing and as a consequence of the SMN loss. Thanks to this project, the researchers will assess the ” requirement of PMTs in SMN protein function using well-established cell and mouse model systems of SMA. Our goal is to determine whether PMTs are required for the SMN protein to work correctly,” Dr. Lotti concluded.