Study: A rare gene contributing to the development of Alzheimer's disease

A team of neuroscientists at the Massachusetts Institute of Technology in the United States revealed the mechanism that makes some rare mutations in a gene called ABCA7 a major cause of increasing the risk of Alzheimer’s disease. The study published in the “Nature” journal showed how the imbalance in this gene leads to a disorder in fat metabolism, which puts nerve cells in a state of harmful stress, but at the same time it opens a treatment horizon by a ordinary nutrient that is “choline”. The ABCA7 -no is responsible for the production of proteins carrying fats through cell membranes, and when rare mutations reduce its efficiency, the possibilities of a person infection with ‘Alzheimer’s’ are compared to the non -wear of these mutations. The ABCA7 is one of the most important genes in the brain, as it is directly associated with the transport of fats through the membranes of the neurons, making it a substantial element to maintain the balance of the components of the cell membrane and its important functions. And when the gene works normal, it helps neurons build flexible membranes that can respond to the environmental pressure and changes within the brain. But when rare mutations or changes in this gene occur, the effectiveness of the resulting protein decreases, resulting in a disorder in fat metabolism in the cell. This disorder makes membranes firmer and affects the way Mitochondria works, which is responsible for energy production, which exposes cells to a state of oxidative stress and DNA damage. This pattern of defect is similar to caused by a more common surge, apoE4, which is one of the most common and associated with Alzheimer’s disease, where there are almost half of those with the disease around the world. APOE4 -no is responsible for producing proteins that regulate the transmission and distribution of fat in the brain, especially cholesterol, which is an essential element for building and renewing neurons membranes. And when the natural version it is, the protein works very efficiently, but the ApoE4 mutation changes its structure and function, which weakens the cells’ ability to handle fats and increases the problems to repair the damage caused by nerve stress as it makes the cells more vulnerable to the accumulation of amyloid protein and the tau protein, which two main marks of Alzheimera is. The surge also weakens the ability of the cells to face infections and increases their excessive excitement, which over time leads to a decrease in memory and cognitive functions. The researchers relied on the data of the “aging and memory studies” project that followed cognitive and motor changes in the elderly since 1994, and among the 1200 samples available, only 12 rare mutations in ABCA7 found. Main axles The nerve cell analysis has shown wide genetic changes associated with three main axes: fat metabolism, DNA damage and the process of energy production through oxidative phosphory in mitochondria. Fat metabolism is a process that the body uses to remove the stored or taken from food and to switch into smaller molecules that can be used in energy production. The process begins with the conversion of triglycerides into fatty acids and glycerols, and then fatty acids enter a series of reactions known as “beta-oxa in the mitochondria”. The end result is the production of molecules that enter a cycle known as ‘Krebis’, which is the central power station, and this process is especially important if you are fasting or a long effort, as the body depends on fat as a main source of energy after the depletion of sugar supplies. It is known that the DNA is the genetic instruction store, but it is exposed to damage that is constantly harming due to various factors such as UV rays, chemicals or even natural errors during copying the genetic material. If DNA damage is not suitable, it can lead to mutations that disrupt genes or change their functions, and this can lead to serious illnesses such as cancer or aging of aging. Fortunately, the cells have advanced recovery systems, such as the mechanism to restore damaged rules or double fractions in the tape, which serves as a ‘maintenance team’ to restore DNA in its normal position and ensure the continuation of the cell operation. Mitochondria is often known as the power plant in the cell, in which an exact operation called the oxidative phosphory takes place, which is the last phase of energy production. During this process, electrons are communicated by a series of protein integrated into the internal membrane of mitochondria, in the so -called ‘electron transport chain’, and this flow generates a difference in the concentration of protons by the membrane, similar to making a small battery. Finally, this gradient is used to produce a molecule called ATP, which is the basic currency of energy in the cell, and without this process the cells will not be able to obtain the energy needed to carry out important activities such as movement, division or even communication between them. If you have tried these mutations on neurons, derived from stimulating stem cells, is a “sitting valve” defect that protects the mitochondria from the accumulation of excess electrical loads, causing high levels of oxidative stress and DNA damage. A change in the metabolism of the “phosphatold colin” molecule was also observed, which led to the stiffness of the cell membranes and the imbalance of Mitochondria. Collen and based on these results, the team tested the treatment of cells affected by the CDP colin molecule, which is an interim substance in the formation of phosphatidille colin, and the results indicated that the membranes regained their flexibility, and the oxidative tension dropped, and that the neurological excessive recruitment of the accumulation of the accumulation of the collapse of the accumulation of the accumulation of the accumulation of the accumulation of the accumulated protein protein protein-protein decrease, and even the accumulation of beta-amyydid-protein protein protein protein protein protein protein protein protein protein. Characteristic brain plates Alzheimer’s were returned to its normal levels. To reinforce the tests, researchers have created 3D tissues (orgeloids of neurons wearing mutations. These tissues also showed a remarkable improvement after choline treatment. The lead author of the study, Li-Hoy Tsey, Director of the Pecor Institute for Learning and Memory at the Massachusetts Institute of Technology, said that her team in 2021 said that her team in 2021 Submittedly added. Nuts, and these food floods open the door for relatively simple protective strategies, such as promoting choline consumption in the diet, or its support with supplements, as an early defensive line against Alzheimer’s.