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Ishita Roy

A Gift to Science: How One Woman’s Brain Donation May Reveal The Down Syndrome-Alzheimer’s Connection

Down Syndrome

The study on <a href="https://www.healthandme.com/health/dementia">dementia</a> have long been done and finally, a team of US researchers have finally decoded that genetic and lifestyle factors might tell us why some people with <a href="https://www.healthandme.com/health/down-syndrome">Down syndrome</a> suffer dementia.

The scientists have found that people with Down syndrome have over 90% of lifetime risk of developing dementia caused by <a href="https://www.healthandme.com/health/alzheimers-disease">Alzheimer's disease</a> as they age. While the link has yet not been figured out, however, it is seen as one of the most common cause of dementia. It is true that people with Down syndrome are born with an extra copy of chromosome 21, which affects how their bran and body develops. Whereas, Alzheimer's is a progressive brain disorder, which slowly destroys memory and cognitive skills. Researchers thus, from the universities of Pittsburgh and California found that an unexpected Alzheimer's disease progression in a patient with Down syndrome. This is what led to the study of its link. The findings is published in the journal Alzheimer's &amp; Dementia, which presents a rare peep into the opportunity to uncover genetic or lifestyle factors.

The patient, a woman, participated in the study for 10 years and donated her brain for research even after her death. Dr Jr-Jiun Liou, a postdoctoral scholar in the department of bioengineering, University of Pittsburg, who imaged her brain using a high-resolution MRI scanner, said, "We are interested in trying to link neuroimaging with neuropathology, because we want to use information from neuropathology datasets to inform diagnostic and therapeutic criteria for individuals with Down syndrome before they pass away."

While the woman was fit till death, an MRI imaging showed presence of neuropathology which indicated Alzheimer's disease in her brain. Liou said that before she passed away, all he clinical assessments in the study indicated that she was cognitively stable, however, after her death the MRI scan revealed otherwise. This is fascinating on it self.

Liou says that it could be her high educational level, "Despite her brain's pathology indicating Alzheimer's, we think that her cognitive ability could have been attributed to her high education level or underlying genetic factors."

Liou also said that if one can identify the lifestyle factors that allowed her brain to function well despite the pathology, it may uncover strategies that could benefit other patients too. 

Another study conducted by scientists at Scripps Research, USA, has unveiled a potential link between air pollution and memory loss associated with Alzheimer's disease. The research suggests that toxins found in air pollution and wildfire smoke may trigger a chemical change in the brain, leading to memory impairment.

The study focuses on a chemical modification known as S-nitrosylation, which occurs when nitric oxide (NO) reacts with proteins, altering their function. This process can prevent brain cells from forming new connections and may ultimately result in cell death. The researchers discovered that excess NO leads to S-nitrosylation of a protein called CRTC1, crucial for regulating genes essential for maintaining neuronal connections. This modification hinders CRTC1 from binding to another regulatory protein, CREB, thereby disrupting gene stimulation necessary for neuron connectivity.

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The study on dementia have long been done and finally, a team of US researchers have finally decoded that genetic and lifestyle factors might tell us why some people with Down syndrome suffer dementia. The scientists have found that people with Down syndrome have over 90% of lifetime risk of developing dementia caused by Alzheimer's disease as they age. While the link has yet not been figured out, however, it is seen as one of the most common cause of dementia. It is true that people with Down syndrome are born with an extra copy of chromosome 21, which affects how their bran and body develops. Whereas, Alzheimer's is a progressive brain disorder, which slowly destroys memory and cognitive skills. Researchers thus, from the universities of Pittsburgh and California found that an unexpected Alzheimer's disease progression in a patient with Down syndrome. This is what led to the study of its link. The findings is published in the journal Alzheimer's & Dementia, which presents a rare peep into the opportunity to uncover genetic or lifestyle factors.How Was The Study Conducted? The patient, a woman, participated in the study for 10 years and donated her brain for research even after her death. Dr Jr-Jiun Liou, a postdoctoral scholar in the department of bioengineering, University of Pittsburg, who imaged her brain using a high-resolution MRI scanner, said, "We are interested in trying to link neuroimaging with neuropathology, because we want to use information from neuropathology datasets to inform diagnostic and therapeutic criteria for individuals with Down syndrome before they pass away."While the woman was fit till death, an MRI imaging showed presence of neuropathology which indicated Alzheimer's disease in her brain. Liou said that before she passed away, all he clinical assessments in the study indicated that she was cognitively stable, however, after her death the MRI scan revealed otherwise. This is fascinating on it self.What Could Have Explained It?Liou says that it could be her high educational level, "Despite her brain's pathology indicating Alzheimer's, we think that her cognitive ability could have been attributed to her high education level or underlying genetic factors."Liou also said that if one can identify the lifestyle factors that allowed her brain to function well despite the pathology, it may uncover strategies that could benefit other patients too. Previous Studies On DementiaAnother study conducted by scientists at Scripps Research, USA, has unveiled a potential link between air pollution and memory loss associated with Alzheimer's disease. The research suggests that toxins found in air pollution and wildfire smoke may trigger a chemical change in the brain, leading to memory impairment.The study focuses on a chemical modification known as S-nitrosylation, which occurs when nitric oxide (NO) reacts with proteins, altering their function. This process can prevent brain cells from forming new connections and may ultimately result in cell death. The researchers discovered that excess NO leads to S-nitrosylation of a protein called CRTC1, crucial for regulating genes essential for maintaining neuronal connections. This modification hinders CRTC1 from binding to another regulatory protein, CREB, thereby disrupting gene stimulation necessary for neuron connectivity.

a gift to science: how one woman’s brain donation may reveal the down syndrome-alzheimer’s connection

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