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September 21st, 2011
12:01 PM ET
New ALS gene mutation discoveredResearchers have identified a genetic abnormality which they believe to be the most common cause of two devastating neurological diseases and could provide future clues to treatment. Two new studies, published online in the journal Neuron, found that amyotrophic lateral sclerosis (ALS) also known as Lou Gehrig's disease and frontotemporal dementia or FTD that run in families are caused in many cases by a mutation on a single gene on chromosome number 9. This mutation causes a short DNA sequence to repeat over and over, much more frequently than in healthy people. The ALS Association, which funded both studies, calls the identification of this genetic mutation "a major milestone in ALS research." According to the data, in healthy individuals the DNA sequence repeats 2 to 23 times. In 23% of familial ALS patients and 12% of familial FTD patients the sequence repeated 700-1,600 times. ALS and FTD are both fatal neurological diseases of the brain. In ALS, nerve cells in the brain and spinal cord begin to degenerate and patients lose the ability to move their bodies and breathe. Almost 6,000 American are diagnosed with the crippling disease each year. FTD causes the degeneration of parts of the brain that control language, emotion, behavioral control and the ability to make decisions (the temporal and frontal lobes). About 20-40% of people with FTD have a family history of the disease. One study looked at patients in Finland which has a high population of ALS patients, according to lead study author Dr. Bryan Traynor from the National Institute on Aging (NIA). "With this finding we've gone from understanding a quarter of familial ALS to two-thirds of familial ALS," Traynor said. "In terms of thinking of the future, what this provides us with is a target to go after. What this allows us to do is to design cell models and animal models of disease we can use to start to screen drugs, and therapeutic agents to see if they are effective in turning off this particular genetic mutation." Traynor says there are 4 genes known to account for 25% of all familial ALS cases. The chromosome 9 gene accounts for an additional 40%. In the second study, researchers at the Mayo Clinic in Jacksonville, Florida also found the same repeat DNA sequence. "This finding has the potential to lead to significant insights into how both of these neurodegenerative diseases develop," Senior Investigator Dr. Rosa Rademakers, neuroscientist at the Mayo Clinic said. "And may give us much needed leads into new ways to treat our patients." The ALS Association's Chief Scientist Lucie Bruijn calls the new data tremendously exciting. "These findings will significantly impact the field as we begin to understand more about the consequences of these changes to the disease process, aid or understanding of FTD and ALS, potentially provide a diagnostic tool, and enable the development of new therapeutic approaches." Still, Traynor says he wants to keep expectations within bounds and be careful not to raise false hopes. That's because typically it's 10 years from gene discovery to clinical trial. He says that's a long time when ALS patients usually live 2-3 years after the onset of symptoms. "It's a step forward, Traynor said. "Now we know which room in which house on which street in which city and that knowledge facilitates ultimately working up a treatment that will slow down this fatal disease.". soundoff (1,143 Responses)1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 Next »Leave a Reply to 파워볼 사이트
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Get a behind-the-scenes look at the latest stories from CNN Chief Medical Correspondent, Dr. Sanjay Gupta, Senior Medical Correspondent Elizabeth Cohen and the CNN Medical Unit producers. They'll share news and views on health and medical trends - info that will help you take better care of yourself and the people you love.
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A EXCITING BREAKTHROUGH FOR THE HUMAN POPULATION! IMAGINE THE PEOPLE WHO WISHED FOR THIS CENTURIES AGO. THE PEOPLE AROUND THE WORLD WITH THIS CRIPPLING DISEASE HAVE A LOT TO LOOK FORWARD TO. THANK YOU TO THE MANY LONG HOURS OF HARD WORK THAT WAS PUT INTO THIS.
I believe this also means we can genetically test for ALS in utero. No more people should be born with ALS.
that's not how genetics works...it's all percentages...true, perhaps this gene sequence can be tested for, but the gene sequence doesn't guarantee ALS will form, but that there is a -% chance of the person getting it...therefore, testing for the genes and getting a positive for this mutation isn't 100% (or even 50%) promise of contracting this disease...in the future, however, testing for this mutation in utero coule lead to 'gene therapy' of the fetus in its early stages to 'overwrite' this mutation away...that is a long time away at our current understanding...
Yes lets abort all fetuses found to potentially have ALS. Who needs people like Stephen Hawking or Lou Gehrig polluting the planet?!?
Not really. It really has more to do with vitamin D deficiency. Activated vitamin D is a steroid hormone that acts as DNA regulator or maintenance and repair hormone. Maybe because of lack of vitamin D, the damage was done in the womb or early in the age and could not be reversed but however vitamin D treatment (no difference than treating vitamin D deficiency) can prolong your life by slowing down progression. Vitamin D deficiency is much more widespread than anyone realizes and the daily recommended amount is far too low to make a difference. We get much more from the sun but we're being told to stay out or put on sunblock that stops vitamin D production in the skin...
Med Hypotheses. 2011 May;76(5):643-5.
Can vitamin D delay the progression of ALS?
Karam C, Scelsa SN.
Source
Albert Einstein College of Medicine, Beth Israel Medical Center, 10 Union Square East, New York, NY 10003, USA. chafickaram@hotmail.com
Abstract
The pathogenesis of amyotrophic lateral sclerosis (ALS) is multifactorial and a treatment targeting only one aspect of the disease is unlikely to be beneficial. Vitamin D is safe and may delay progression of ALS by acting on several aspects of the disease. In this article we explore how vitamin D may promote VGEF, IGF-1 and axonal regeneration delaying ALS progression. In addition, we discuss how vitamin D may increase calcium binding protein in motor neuron cells conferring a greater resistance to the underlying disease process, as seen in the oculomotor nerve and Onuf's nucleus. Finally, we discuss vitamin D immunomodulator role, decreasing the reactive gliosis in ALS.
Copyright © 2011 Elsevier Ltd. All rights reserved.
@shawn- ever see any one die from ALS or FTD? Stephen Hawking has a very unusual type of ALS that has slowly progressed over the course of 45+ years! He has slowly deteriorated to where he is now. Its sad but he has "managed" to live with his illness decades longer than the usual ALS patient. Imagine your body deteriorating while your mind remains intact. You may be young. (Mr. Hawking was 21) You still have so much life ahead of you. But then you can no longer walk. Then you can barely move your arms. You lose the ability to hold your head up. And then when your body can no longer force itself to breathe, you suffocate to death, unable to ask for help, mercy, or a loved ones hand to comfort you. You are 24 when your family buries the shell of your body that remains. It not throwing a baby away to screen for these diseases. Its is trying to eradicate something that kills slowly, painfully, and torturously. I have watched a loved one die from ALS. The look in her eyes as her life slipped away will forever haunt me. RIP CJG
Is this article talking about *only* FALS, which only accounts for around 10% of all ALS cases? Do the studies shed any light on regular, non-inherited ALS, which accounts for the vast majority of ALS?
my understanding of genetice leads me to believe that all ALS is genetic, but not inherited...some day, i'm sure, scientists will discover how the genetics of the parents combine to form the 'non-inherited' form...thus, people will be able to de-select particular gene sequences in order to avoid their children having a higher likelyhood of contracting the disease...
i envision a future where (instead of a couple going out for dinner, having a drink or two and then going home and making a baby) a couple goes into a clinic before dinner and selects a sperm/ovary combination they prefer and then going out to dinner...strange...
Hi Ann, I don't think this study sheds light on the much more common sporadic ALS as you suggest. We are still not sure how the two types of ALS may be linked, but this is a huge breakthrough for familiar ALS which can be triggered by numerous genetic variations, though this is definitely one of the biggest if not the biggest identified so far.
Dave, do you base your opinion on science? If so, what is the evidence? If not, voicing this particular opinion is irresponsible as it leads to unnecessary worry in the children of ALS victims. I speak from personal experience.
Shawn...Stephen Hawking's takes craps that are smarter than you...did you even finish g
I am absolutely appalled by Shawn's comment. My father died of ALS when I was 9 years old. He was a lung pathologist. My dad and other ALS patients do not "pollute" this planet. Absolutely ridiculous.
I think Shawn was using sarcasm to reply to the comment about no one being born with ALS cause we could test for it in utero.
Shawn's comment was a sarcastic rebuttal to BusyMommy's comment. She is the one you should be appalled by. What a sick and wrong way of looking at it. I'm glad you're not MY "mommy".
A related form of ALS called PLS (Primary Lateral Sclerosis) runs in my family. My fathers 2 brothers both had it. It is a non-fatal form but causes major life altering problems...loss of speech, loss of voluntary muscle functions...debilitating to say the lease. I wonder if this break through will be a break through for that as well???
I researched this and read thar its located on the 21st chromosome. Any feed back? also on mice its the 16th. Pls i need to know if this is true.
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My mom ALS started out with a foot drop on her left foot. From there her left leg lost all muscle tone and all the entire left leg muscles were almost gone. Also her fingers and thumbs "contract" at times. Left arm is losing muscle tone too,she have been suffering from amyotrophic laterals sclerosis (ALS) disease for the last seven years and had constant pain which really get us worried, especially in her knees, the only treatment for this ALS (amyotrophic lateral sclerosis) is natural organic treatments honestly ,Multivitamin Herbal Care has the perfect herbal remedy to Motor Neuron Disease including,getting into bed was also another thing she finds impossible. We had to find a better solution for her condition which has really helped her a lot,The biggest help we had was multivitamincare orgThey walked us through the proper steps, I highly recommend these herbs to anyone suffering from ALS.
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CBD for Stress And Anxiety and Depression: Visualize that it is feasible to introduce one natural preparation into your day-to-day diet plan, which could confirm to be the key to winning the fight for a calmer life for individuals with depressive disorders. What happens if the incorporation of this preparation, created on the basis of a significantly well-known as well as examined chemical substance of plant origin, is not only possibly very reliable, yet is not associated with the risk of negative effects common of pharmacological medications? Is it even possible? Where's the catch? Do you would like to know even more? Read this article In this short article we will cover: What is depression? THC as well as CBD cannabinoids – differences Clinical depression as well as the endocannabinoid system What is depression? 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This system is still not completely comprehended, however it seems logical that a strongly depressed mood in an individual time period for a details case, and with the synchronised lack of activities aimed at its renovation, causes a rise of the influx of unfavorable thoughts. As depressive disorders create, they can turn into much more hazardous types of problems, e.g. psychosis, delusions or schizophrenia. Reducing this process as promptly as possible may become essential in the efficient treatment of mental disorders of human functioning.
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Official interpretations suggest that depressive problems, also known colloquially as depression, are characterized by: sudden anxiety of a person's mood, in the adverse direction, of moderate to solid strength of the intensity of the experienced adjustments, for greater than a couple of weeks. There may be one or more factors for the event of adjustments. It also takes place that it is difficult to determine any type of unequivocal factor. We really commonly found the declaration that it is a human being illness of the 21st century – it impacts both older as well as younger individuals. Our education is trivial for clinical depression, not to mention our incomes – it can influence anyone. Therapy of anxiety comes down to: pharmacotherapy, psychotherapy and also psychoeducation, phototherapy, electroconvulsive therapy and also even more all-natural activities associated with the concentration of exercise and also the intro of significant changes in the daily diet. It is as part of natural approaches of fighting as well as counteracting anxiety that the addition of cannabis prep work with cannabinoids normally occurring in the plant in the daily diet is obtaining an increasing number of appeal worldwide. Cannabidiol CBD, found in e.g. CBD oil or full-spectrum hemp oil, shows up in various scientific studies as a potentially effective cannabinoid in the treatment of clinical depression. Notably, it is a 100 all-natural chemical compound of plant beginning. Remarkably, depression is among the three most usual mental disorders in which people consider CBD hemp prep work such as CBD oil, complete spectrum hemp oil with CBD or CBD pills. Reports from customers and their favorable point of views on the effectiveness of e.g. CBD oil or full range hemp oil with all-natural CBD are growing at an extraordinary speed. THC and CBD cannabinoids – differences The main cannabinoids in the marijuana plant are THC (Δ9-tetrahydrocannabinol) as well as CBD (cannabidiol). They show antagonistic impacts, which suggests that CBD lowers the impacts of THC. What are these effects? THC has an intoxicating result, creates a feeling of euphoria, influences cognitive features, yet likewise loosens up. Huge, routinely eaten dosages of THC are taken into consideration unsafe to the human brain. Too much consumption of THC can lead to psychosis, lack of motivation, and even permanent negative changes in cognitive function. Both THC as well as CBD affect the endocannabinoid system in the body. Their action, as currently discussed, is contradictory. Cbd-a-thc-in-the-endocannabinoid-1 system When creating images, CBD slows down the exhaustion of anandamide resources, as well as THC accelerate this process. Nonetheless, this does not suggest that THC is just an unsafe cannabinoid as well as needs to not be in the preparation at all. On the other hand. Its small visibility in hemp prep work is also necessary in order to acquire the so-called result. harmony. THC completely spectrum hemp oil is present in such a limited and, importantly, legal amount. This amount is so tiny (less than 0.2) that it does not cause drunkenness. Collaborating, THC and also CBD have better capacity than either molecule acting alone. What is anandamide (AEA)? What is its value for individuals struggling with depression? Read on! CBD, Depression and the endocannabinoid system The endocannabinoid system is an essential system responsible for the policy of basic human physical procedures, such as power management, neurohormonal as well as neuroimmune links, electric motor activity, mood and also inspiration, as well as fat metabolism. The endocannabinoid system consists of a neurotransmitter called anandamide (AEA). Anandamide is a neurotransmitter that is naturally created in the human mind. Its manufacturing is stimulated by e.g. exercise, and to a lesser extent by the supposed deal with the body (massage therapy!). Its sources are "utilized" to keep the proper performance of the body, consisting of in the field of mental health. As displayed in this study: https://www.ncbi.nlm.nih.gov/pubmed/23580381 high levels of anandamide are associated with a lowered danger of developing psychotic signs and symptoms. A high degree of anandamide is likewise related to a favorable result on the reduction of clinical depression and also anxiety signs and symptoms. This mechanism is still not fully understood, but it seems rational that a strongly clinically depressed state of mind in an individual time period for a certain instance, and also with the synchronised absence of activities aimed at its enhancement, causes a concentration of the influx of negative ideas. As depressive problems create, they can turn into even more dangerous forms of disorders, e.g. psychosis, misconceptions or schizophrenia. Decreasing this procedure as quickly as possible may turn out to be essential in the efficient therapy of mental disorders of human performance.
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CBD for Anxiousness as well as Anxiety: Visualize that it is possible to present one natural preparation right into your everyday diet regimen, which might show to be the secret to winning the defend a calmer life for people with depressive problems. What if the incorporation of this prep work, produced on the basis of an increasingly widely known and also checked chemical compound of plant beginning, is not just potentially very efficient, however is not related to the threat of side effects normal of medicinal medications? Is it also possible? Where's the catch? Do you wish to know even more? Read this write-up In this write-up we will certainly cover: What is anxiety? THC distinctions Clinical depression and also the endocannabinoid system What is clinical depression? Official definitions suggest that depressive problems, also understood colloquially as anxiety, are characterized by: abrupt anxiety of an individual's mood, in the unfavorable direction, of modest to solid intensity of the strength of the knowledgeable modifications, for more than a couple of weeks. There might be several reasons for the occurrence of changes. It additionally takes place that it is tough to determine any type of indisputable reason. We extremely commonly discovered the statement that it is a world condition of the 21st century – it impacts both older and younger individuals. Our education is not important for clinical depression, not to mention our revenues – it can affect anybody. Therapy of clinical depression boils down to: pharmacotherapy, psychotherapy and psychoeducation, phototherapy, electroconvulsive therapy and also more all-natural tasks related to the increase of exercise and also the intro of substantial adjustments in the daily diet plan. It is as part of natural techniques of combating as well as counteracting anxiety that the incorporation of marijuana prep work with cannabinoids normally happening in the plant in the daily diet plan is acquiring increasingly more appeal on the planet. Cannabidiol CBD, located in e.g. CBD oil or full-spectrum hemp oil, shows up in numerous clinical research studies as a potentially effective cannabinoid in the treatment of clinical depression. Significantly, it is a 100 natural chemical substance of plant beginning. Surprisingly, anxiety is among the 3 most usual mental disorders in which patients turn to CBD hemp prep work such as CBD oil, full range hemp oil with CBD or CBD capsules. Reports from consumers and also their favorable viewpoints on the performance of e.g. CBD oil or full range hemp oil with all-natural CBD are growing at an unprecedented pace. THC and also CBD cannabinoids – distinctions The primary cannabinoids in the marijuana plant are THC (Δ9-tetrahydrocannabinol) and also CBD (cannabidiol). They reveal hostile results, which means that CBD reduces the impacts of THC. What are these results? THC has an intoxicating result, causes a feeling of bliss, impacts cognitive features, yet additionally kicks back. Huge, frequently taken in dosages of THC are taken into consideration dangerous to the human brain. Too much consumption of THC can lead to psychosis, lack of inspiration, and also permanent adverse modifications in cognitive feature. Both THC as well as CBD affect the endocannabinoid system in the body. Their activity, as currently discussed, is contradictory. Cbd-a-thc-in-the-endocannabinoid-1 system When composing pictures, CBD decreases the depletion of anandamide resources, and THC quicken this process. Nonetheless, this does not mean that THC is just a harmful cannabinoid as well as needs to not be in the prep work in any way. However. Its small presence in hemp prep work is also essential in order to acquire the so-called impact. harmony. THC in full range hemp oil is present in such a minimal and, significantly, lawful amount. This amount is so tiny (less than 0.2) that it does not trigger intoxication. Interacting, THC and CBD have better capacity than either molecule performing alone. What is anandamide (AEA)? What is its value for individuals struggling with anxiety? Keep reading! CBD, Clinical depression and the endocannabinoid system The endocannabinoid system is an essential system responsible for the guideline of basic human physical processes, such as energy administration, neurohormonal and also neuroimmune connections, electric motor task, state of mind and also inspiration, as well as fat metabolic rate. The endocannabinoid system consists of a neurotransmitter called anandamide (AEA). Anandamide is a natural chemical that is naturally produced in the human mind. Its manufacturing is boosted by e.g. physical activity, as well as to a lesser extent by the supposed deal with the body (massage!). Its resources are "used" to preserve the proper functioning of the body, including in the field of mental health. As displayed in this study: https://www.ncbi.nlm.nih.gov/pubmed/23580381 high degrees of anandamide are related to a lowered danger of developing psychotic signs. A high level of anandamide is also connected with a positive effect on the decrease of depression as well as stress and anxiety signs and symptoms. This mechanism is still not fully comprehended, but it seems sensible that a strongly clinically depressed state of mind in an individual amount of time for a certain instance, and also with the synchronised lack of actions aimed at its improvement, leads to a concentration of the increase of unfavorable ideas. As depressive conditions establish, they can turn into much more hazardous types of disorders, e.g. psychosis, delusions or schizophrenia. Slowing down this procedure as promptly as possible might become vital in the effective therapy of mental disorders of human functioning.
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