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Tanya Dutt

Breakthrough Study Reveal What Triggers Huntington's Disease- Scientists Find New Answers

Breakthrough Findings Reveal What Triggers Huntington's Disease- Scientists Find New Answers

<span><a href="https://www.healthandme.com/health/huntingtons-disease">Huntington's disease</a></span> is a rare, inherited neurological disorder that affects individuals at the peak of their lives, causing permanent damage to brain cells and progressively affecting movement, cognitive functions, and behavior. It is an incapacitating disorder without cure, although its genetic cause has been identified for many decades, scientists have been struggling with the mechanism by which it manifests in people carrying the mutation since birth but remains symptom-free until adulthood.

Recent studies have unveiled how Huntington's disease is triggered. They explain the mechanism by which an apparently latent genetic mutation becomes a killer.

Huntington's disease is essentially caused by a genetic mutation in the HTT gene, which codes for a protein called huntingtin. The mutation consists of the abnormal repetition of a three-letter DNA sequence, CAG, within the gene.

In healthy individuals, the CAG sequence is repeated 15 to 35 times. People with Huntington's disease have more than 40 repeats. This excess leads to the production of a defective huntingtin protein that becomes toxic over time.

But here’s the twist: this mutation doesn’t wreak havoc immediately. For years, even decades, it remains relatively harmless. Scientists have now discovered that the mutation grows progressively, expanding the number of CAG repeats over time. When the count surpasses a critical threshold—about 150 repeats—certain neurons become overwhelmed, triggering cell death and the onset of symptoms.

<h2>How the Mutation Grows Over Time and Cause Brain Damage?</h2>

Breakthrough research done by scientists from the Broad Institute of MIT and Harvard, McLean Hospital, and Harvard Medical School has mapped out the expansion of this mutation in exquisite detail. Analyzing the brain tissue from those with and without Huntington's disease, they discovered how the mutation evolves.

For the first two decades of life, DNA repeats expand slowly and do not pose an immediate threat.

At about the 80-CAG mark, expansion increases its pace and then it starts the chain reaction of toxic effects.

Above 150 or more repeats the mutation causes the neurons to start sickness and eventually die, giving the hallmark symptoms of Huntington's disease.

According to co-senior author Dr. Steve McCarroll, these results are "surprising," in that they showed a direct relationship between the size of the repeats and the age at which the disease began. In fact, it has been greeted with skepticism within the scientific community, as prior studies had suggested that smaller expansions were enough to cause the disease. However, new information debunks that any expansions under 100 CAGs may involve a higher risk but does not drive the full onset of Huntington's.

Huntington's disease is a genetic disorder that progressively leads to the death of brain cells. It primarily affects regions of the brain responsible for voluntary movement and memory. Individuals with Huntington's often experience symptoms such as uncontrollable movements, along with significant changes in thinking, behavior, and personality. Over time, these symptoms progressively worsen, severely impacting quality of life.

<h2>Symptoms of Huntington's disease</h2>

Symptoms of Huntington's disease appear between the ages of 30 and 50 and worsen gradually over a period of 10 to 25 years. The disease affects physical and mental functions, causing: Involuntary movements (chorea)

<ul><li>unsteady gait</li><li>poor coordination</li><li>Difficulty concentrating</li><li>memory loss</li><li>poor judgment</li><li>Irritability</li><li>depression</li><li>personality changes</li><li>eventual loss of independence</li></ul>

The severity of these symptoms impairs the quality of life for a person and his or her family, thus placing a premium on finding effective treatments. 

<h2>What Does This Mean for Huntington's disease Treatment</h2>

While a broadening understanding of Huntington's disease, the current treatments available are essentially symptomatic. The drugs are capable of alleviating any movement disorders and mood alterations but don't alter the process of the disease progression.

Experimental drugs aimed at reducing the amounts of toxic proteins have had little success in human trials, mainly because at any one time, only relatively few cells express the poisonous version of the huntingtin protein. But a new study holds out a potential hope, the possibility of intervening before a DNA repeat becomes pathogenic.

Dr. McCarroll and his team believe that slowing or stopping the expansion of CAG repeats could delay or even prevent the onset of Huntington's disease. Although this approach remains experimental, it has already spurred renewed interest among pharmaceutical companies to develop therapies aimed at stabilizing the mutation.

About 41,000 Americans currently live with the disease, though tens of thousands more are expected to be afflicted because Huntington's is a genetic disorder. Discoveries such as these provide an inkling of hope for affected families, uncertain about their situations.

While there is no guarantee that stopping the expansion of CAG repeats will cure Huntington's, this research is a significant step toward understanding the disease at its molecular level. Scientists are optimistic that these findings could pave the way for preventive treatments that protect vulnerable neurons from succumbing to the toxic effects of the mutation.

As Dr. Sabina Berretta, a senior author of the study, noted, "The longer the repeats, the earlier in life the onset will happen." Armed with this knowledge, researchers are now better equipped to explore interventions that could delay the devastating symptoms of Huntington's disease and, perhaps, one day prevent them entirely.

Huntington's disease remains one of the major challenges; however, scientific research has given tremendous insights into what the real roots of the condition are. Thus, researchers open new doors toward treatments that might change the path of this devastative condition with the knowledge about how the mutation evolves and comes to a tipping point.

<em><a href="https://www.cell.com/cell/fulltext/S0092-8674(24)01379-5#:~:text=Huntington's%20disease%20(HD)%20is%20a,impairment%2C%20rigidity%2C%20and%20lethality." data-type="tilCustomLink" target="_blank" rel= "noopener nofollow noreferrer" target= "_blank">Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease. </a>Cell. 2025</em>

<a href="https://www.cell.com/cell/abstract/0092-8674(93)90585-E" data-type="tilCustomLink" target="_blank" rel="noopener nofollow noreferrer" rel= "noopener nofollow noreferrer" target= "_blank">A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. </a>Cell. 1993

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Huntington's disease is a rare, inherited neurological disorder that affects individuals at the peak of their lives, causing permanent damage to brain cells and progressively affecting movement, cognitive functions, and behavior. It is an incapacitating disorder without cure, although its genetic cause has been identified for many decades, scientists have been struggling with the mechanism by which it manifests in people carrying the mutation since birth but remains symptom-free until adulthood.Recent studies have unveiled how Huntington's disease is triggered. They explain the mechanism by which an apparently latent genetic mutation becomes a killer.Huntington's disease is essentially caused by a genetic mutation in the HTT gene, which codes for a protein called huntingtin. The mutation consists of the abnormal repetition of a three-letter DNA sequence, CAG, within the gene.In healthy individuals, the CAG sequence is repeated 15 to 35 times. People with Huntington's disease have more than 40 repeats. This excess leads to the production of a defective huntingtin protein that becomes toxic over time.But here’s the twist: this mutation doesn’t wreak havoc immediately. For years, even decades, it remains relatively harmless. Scientists have now discovered that the mutation grows progressively, expanding the number of CAG repeats over time. When the count surpasses a critical threshold—about 150 repeats—certain neurons become overwhelmed, triggering cell death and the onset of symptoms. How the Mutation Grows Over Time and Cause Brain Damage?Breakthrough research done by scientists from the Broad Institute of MIT and Harvard, McLean Hospital, and Harvard Medical School has mapped out the expansion of this mutation in exquisite detail. Analyzing the brain tissue from those with and without Huntington's disease, they discovered how the mutation evolves.Slow StartFor the first two decades of life, DNA repeats expand slowly and do not pose an immediate threat.Fast ForwardAt about the 80-CAG mark, expansion increases its pace and then it starts the chain reaction of toxic effects.Critical PointAbove 150 or more repeats the mutation causes the neurons to start sickness and eventually die, giving the hallmark symptoms of Huntington's disease.According to co-senior author Dr. Steve McCarroll, these results are "surprising," in that they showed a direct relationship between the size of the repeats and the age at which the disease began. In fact, it has been greeted with skepticism within the scientific community, as prior studies had suggested that smaller expansions were enough to cause the disease. However, new information debunks that any expansions under 100 CAGs may involve a higher risk but does not drive the full onset of Huntington's. What is Huntington's disease?Huntington's disease is a genetic disorder that progressively leads to the death of brain cells. It primarily affects regions of the brain responsible for voluntary movement and memory. Individuals with Huntington's often experience symptoms such as uncontrollable movements, along with significant changes in thinking, behavior, and personality. Over time, these symptoms progressively worsen, severely impacting quality of life.Symptoms of Huntington's diseaseSymptoms of Huntington's disease appear between the ages of 30 and 50 and worsen gradually over a period of 10 to 25 years. The disease affects physical and mental functions, causing: Involuntary movements (chorea)unsteady gaitpoor coordinationDifficulty concentratingmemory losspoor judgmentIrritabilitydepressionpersonality changeseventual loss of independenceThe severity of these symptoms impairs the quality of life for a person and his or her family, thus placing a premium on finding effective treatments. What Does This Mean for Huntington's disease TreatmentWhile a broadening understanding of Huntington's disease, the current treatments available are essentially symptomatic. The drugs are capable of alleviating any movement disorders and mood alterations but don't alter the process of the disease progression.Experimental drugs aimed at reducing the amounts of toxic proteins have had little success in human trials, mainly because at any one time, only relatively few cells express the poisonous version of the huntingtin protein. But a new study holds out a potential hope, the possibility of intervening before a DNA repeat becomes pathogenic.Dr. McCarroll and his team believe that slowing or stopping the expansion of CAG repeats could delay or even prevent the onset of Huntington's disease. Although this approach remains experimental, it has already spurred renewed interest among pharmaceutical companies to develop therapies aimed at stabilizing the mutation.About 41,000 Americans currently live with the disease, though tens of thousands more are expected to be afflicted because Huntington's is a genetic disorder. Discoveries such as these provide an inkling of hope for affected families, uncertain about their situations.While there is no guarantee that stopping the expansion of CAG repeats will cure Huntington's, this research is a significant step toward understanding the disease at its molecular level. Scientists are optimistic that these findings could pave the way for preventive treatments that protect vulnerable neurons from succumbing to the toxic effects of the mutation.As Dr. Sabina Berretta, a senior author of the study, noted, "The longer the repeats, the earlier in life the onset will happen." Armed with this knowledge, researchers are now better equipped to explore interventions that could delay the devastating symptoms of Huntington's disease and, perhaps, one day prevent them entirely.Huntington's disease remains one of the major challenges; however, scientific research has given tremendous insights into what the real roots of the condition are. Thus, researchers open new doors toward treatments that might change the path of this devastative condition with the knowledge about how the mutation evolves and comes to a tipping point.Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease. Cell. 2025A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993

breakthrough findings reveal what triggers huntington's disease- scientists find new answers

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Breakthrough Study Reveal What Triggers Huntington's Disease- Scientists Find New Answers

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