Co-lead author Sarah Eger did the analytical heavy lifting that made it possible for the scientists to contextualize the data.An incomplete damage” There is a distinction in that if you have a mutation causing Alzheimers, you have a preferential activation in numerous various cell types– neurons, astrocytes, and other cells– that turn on an autophagy system involved in taking proteins that are bad, that are misfolded, that might be contributing to disease, and ruining them,” Kosik stated. Much about how this remarkable lady handled to leave the illness regardless of having the PSEN1 E280A anomaly is still a secret, however thanks to her households contribution of her brain to science, Kosik and his team are amongst numerous partnerships around the world revealing ideas as to how she achieved that feat.One clue that appeared when researchers examined her brain tissue: While Aliria had the very same overproduction of senile plaques that the rest of her family had, the tangles of misfolded tau protein that normally accompany the plaques in the frontotemporal cortex of Alzheimers patients in her were relatively scant, keeping intact things like motor skills and executive function.” The Kosik Lab is now working on showing this hypothesis.Reference: “Single-nucleus RNA sequencing shows an autosomal dominant Alzheimers disease profile and possible systems of illness protection” by Maria Camila Almeida, Sarah J. Eger, Caroline He, Morgane Audouard, Arina Nikitina, Stella M.K. Glasauer, Dasol Han, Barbara Mejía-Cupajita, Juliana Acosta-Uribe, Nelson David Villalba-Moreno, Jessica Lisa Littau, Megan Elcheikhali, Erica Keane Rivera, Daniel Carneiro Carrettiero, Carlos Andrés Villegas-Lanau, Diego Sepulveda-Falla, Francisco Lopera and Kenneth S. Kosik, 27 February 2024, Neuron.DOI: 10.1016/ j.neuron.2024.02.009.
Co-lead author Sarah Eger did the statistical heavy lifting that made it possible for the researchers to contextualize the data.An incomplete destruction” There is a distinction in that if you have an anomaly causing Alzheimers, you have a preferential activation in many various cell types– neurons, astrocytes, and other cells– that turn on an autophagy system included in taking proteins that are bad, that are misfolded, that may be contributing to illness, and ruining them,” Kosik stated. “I would say we have to be cautious about extrapolating scientific trial results from the Colombian kindred since the disease mechanisms are a little various,” Kosik said.An uncommon escapeeAnd then theres Aliria Rosa Piedrahita de Villegas, a family member with the very same mutation who defied the chances by living to her 70s without developing the dementia that cuts her family members down before they reach 60. Much about how this remarkable woman managed to get away the disease in spite of having the PSEN1 E280A anomaly is still a secret, however thanks to her households donation of her brain to science, Kosik and his group are among several cooperations around the world uncovering ideas as to how she achieved that feat.One clue that appeared when researchers examined her brain tissue: While Aliria had the exact same overproduction of senile plaques that the rest of her household had, the tangles of misfolded tau protein that generally accompany the plaques in the frontotemporal cortex of Alzheimers patients in her were reasonably little, keeping undamaged things like motor skills and executive function.” This gene is called LRP1,” Kosik stated, adding that they were “puzzled and astonished” when they saw it due to the fact that in the world of Alzheimers illness, LRP1 would more likely be a bad guy, encoding a receptor of the exact same name on the surface of the cells that binds to APOE however also takes up tau into cells.” The Kosik Lab is now working on showing this hypothesis.Reference: “Single-nucleus RNA sequencing demonstrates an autosomal dominant Alzheimers illness profile and possible mechanisms of disease protection” by Maria Camila Almeida, Sarah J. Eger, Caroline He, Morgane Audouard, Arina Nikitina, Stella M.K. Glasauer, Dasol Han, Barbara Mejía-Cupajita, Juliana Acosta-Uribe, Nelson David Villalba-Moreno, Jessica Lisa Littau, Megan Elcheikhali, Erica Keane Rivera, Daniel Carneiro Carrettiero, Carlos Andrés Villegas-Lanau, Diego Sepulveda-Falla, Francisco Lopera and Kenneth S. Kosik, 27 February 2024, Neuron.DOI: 10.1016/ j.neuron.2024.02.009.
