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

Image Credit: Canva

Updated Jan 19, 2025 | 04:25 PM IST

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

SummaryHuntington's disease is a hereditary disorder caused by a genetic mutation in the HTT gene, leading to progressive brain cell damage, affecting movement, cognition, and behavior, with no current cure.

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 Start

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

Fast Forward

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

Critical Point

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.

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 disease

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)

  • unsteady gait
  • poor coordination
  • Difficulty concentrating
  • memory loss
  • poor judgment
  • Irritability
  • depression
  • personality changes
  • eventual loss of independence

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.

What Does This Mean for Huntington's disease Treatment

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.

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease. Cell. 2025

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993

End of Article
IBS Awareness Month: Could Gravity Be Wrecking Your Digestive Health?

Credits: Canva

Updated Apr 26, 2025 | 03:00 AM IST

IBS Awareness Month: Could Gravity Be Wrecking Your Digestive Health?

SummaryIBS affects nearly 10% of the global population, yet we still don’t fully understand its cause but a new research has suggested that gravity could be a surprising trigger.

Every year in April, IBS Awareness Month puts the spotlight on one of the world's most misunderstood and elusive gastrointestinal disorders—Irritable Bowel Syndrome (IBS). Affecting about 10% of the world's population, IBS has puzzled physicians and researchers for years. Though its chronic and interruptive symptoms—abdominal pain and bloating on one end, constipation and diarrhea on the other—there remains no agreement on what actually triggers it. A new, daring theory is disrupting conventional wisdom by posing an unusual question- Is gravity the hidden culprit behind IBS?

Dr. Brennan Spiegel, a Cedars-Sinai Medical Center physician and researcher in Los Angeles, is leading the way to a new perspective on IBS—one that looks at the constant pull of gravity on our bodies. In the American Journal of Gastroenterology, Spiegel's theory is that IBS could be the body's failure to successfully deal with gravity.

It's an interesting concept. "We spend our whole life in gravity, are formed by it, but barely appreciate its constant effect on our body," Spiegel explained in an interview. "Each strand of our body is touched by gravity every day, from the top of our head to our gastrointestinal tract."

From a scientific perspective, this hypothesis borrows from evolutionary biology and neurophysiology. The human body over millennia has evolved complex systems—musculoskeletal, gastrointestinal, neurological—to deal with the downward pull of gravity. When these systems fail, Spiegel argues, they can initiate not only gastrointestinal symptoms but also a cascade of other complaints—muscle pain, fatigue, changed mood, and more.

What is the Gut-Brain Axis and the Roller Coaster Effect?

At its core is the connection between the gut and the brain—a widely documented characteristic of IBS. Individuals with IBS tend to experience a knotted stomach upon stress or a sensation of "butterflies" in stressful situations. Such gut feeling, as Spiegel speculates, may be attributed to the nervous system's adaptation to threats from gravity, such as the free-falling experience on a roller coaster.

"Our nervous system has mechanisms for perceiving and reacting to changes in gravity," he added. "When it flakes out or overcompensates, it may show up as IBS symptoms." This is related to another fascinating twist: the difference between individuals' reactions to gravitational stress. There are those who love roller coasters; others get nauseated or frantic—implying a continuum of what Spiegel refers to as G-force vigilance.

This might explain why IBS tends to overlap with disorders such as anxiety, depression, fibromyalgia, and chronic fatigue syndrome—all of which could potentially have an underlying sensitivity to gravitational stress.

Link Between IBS and Gravity

Spiegel's theory also explores deeper into anatomy. The abdominal cavity houses heavy organs that need to be "suspended" effectively. Genetic predispositions—lax connective tissues, a weak diaphragm, or spinal misalignments in some—may lead to sagging or movement of organs, including the intestines. The downward movement could affect motility, lead to cramping, and result in bacterial overgrowth—all prevalent in IBS.

In addition, the hypothesis delves into serotonin's role. This mood-regulating neurotransmitter also facilitates balance, blood circulation, and the movement of intestinal contents. "Dysregulated serotonin," Spiegel explains, "could actually be a type of gravity failure," which may connect depression, IBS, and even dizziness in a common physiological cycle.

What It Means for Treatment and Prevention

If confirmed, the gravity hypothesis has the potential to transform how we conceptualize—and treat—IBS. "The beauty of it is that it's testable," said Dr. Shelly Lu, director of the Division of Digestive and Liver Diseases at Cedars-Sinai. Unlike so many vague IBS theories, this one invites us to the possibility of targeted interventions.

This hypothesis can also assist us in better comprehending the reason why exercise, posture correction, core strengthening, and physical therapy work for most IBS sufferers. By fortifying the structural support system of the body, these strategies might decrease gravity's effect on the gut.

Symptoms, Triggers, and the IBS Daily Struggle

IBS is an individualized disease. Symptoms range widely and may include:

  • Abdominal bloating, pain, and cramping related to bowel movements
  • Alterations in stool appearance or frequency
  • A feeling of not fully emptying the bowels, gas, and mucus in stool

Its triggers are also multifactorial. Stress and some foods—dairy, citrus, beans, wheat, and carbonated beverages—may exacerbate symptoms. Although food intolerances are not the cause in every case, many individuals find significant symptom relief through diet, such as a low FODMAP diet.

IBS isn't only an intestinal affliction—it can also blow a person's life off track. Chronic patients usually suffer from complications such as hemorrhoids due to constant diarrhea or constipation, and generally decreased quality of life. Research indicates that individuals with moderate to severe IBS experience three times more work absences compared to others. The psychological price is high too—aún and depression often accompany one another in IBS, one worsening the other.

Could this be the long-lost piece to a hundred-year-old puzzle? Maybe. Although further research is necessary to establish the gravity connection, the theory is already creating new avenues for comprehension and healing.

If you have ongoing digestive problems, see a healthcare provider. IBS is a treatable condition, and treatment options can involve medication, counseling, physical therapy, or dietary changes depending on your individual symptoms.

End of Article
A 10% Drop In Vaccination Rates Could Lead To Millions Of Measles Cases In US Over 25 Years

Updated Apr 25, 2025 | 08:45 PM IST

10% Drop In Vaccination Rates Could Lead To Millions Of Measles Cases In US Over 25 Years

SummaryVaccination has significantly reduced the spread of deadly diseases. Measles, once causing millions of cases annually, has been almost wiped out in the U.S. due to widespread immunization programs.

US childhood vaccination rates have taken a disturbing decline, exacerbated by the disruption caused by the COVID-19 pandemic. It is not simply a statistic—but a warning sign of future health threats. The effects are already being seen, with measles rebounding and potentially the return of other diseases once brought under control, such as rubella and polio. A recent Stanford Medicine study, published in the Journal of the American Medical Association, paints a dire picture: a 10% decline in vaccination rates could result in millions of measles cases over the next 25 years.

The rising danger of preventable illness, and the reason why vaccination is key to protecting public health. From the emergence of vaccine hesitancy to the surging spread of measles.

The drop in childhood vaccinations in the U.S. has been a rising concern among health professionals. Although the disruptions brought about by the COVID-19 pandemic were a major factor, the trend of declining immunization rates is not new. For years, growing vaccine hesitancy, driven by misinformation, political controversy, and skepticism about health systems, has fueled a change in public perception, particularly among parents. Consequently, fewer kids are getting the necessary vaccines and diseases that previously were under control are now being a threat again.

The research done by a group of researchers from Stanford, together with other universities' experts, shows the risk of measles becoming endemic again in the U.S. It might occur in as little as two decades if the vaccination rate is sustained at current levels. Nevertheless, a 10 percent decline in the rate of vaccinations could make things even worse, and millions of individuals could become susceptible to infection, hospitalizations, and death.

Measles is the most infectious disease on Earth, with the potential to spread quickly through populations. Prior to the introduction of the measles vaccine in 1963, the illness was rampant throughout the U.S., affecting millions of individuals annually. Indeed, before the vaccine, an estimated 3 million to 4 million individuals were infected with the disease every year, with 400 to 500 deaths, 48,000 hospitalizations, and 1,000 instances of brain swelling (encephalitis).

As per the CDC, measles remains a lethal disease, primarily for children. It spreads via respiratory droplets when an infected person coughs or sneezes and symptoms may range from fever, cough, runny nose, and a characteristic red, blotchy rash. As the disease is vaccine-preventable with the MMR (measles, mumps, rubella) vaccine, unvaccinated individuals are at the greatest risk of being infected and infecting others.

The recent study by Stanford researchers utilized large-scale epidemiological modeling to simulate how infectious diseases like measles would spread across the United States based on different levels of childhood vaccination coverage. The results are concerning. Even at current vaccination rates, the study suggests that measles could re-emerge as an endemic disease in the U.S. within the next two decades. A mere 10 percentage point reduction in vaccination coverage would accelerate this process significantly, potentially resulting in millions of measles cases in the next 25 years.

Dr. Nathan Lo, a Stanford physician and the study's senior author, underscored the seriousness of the situation. "Our nation is at a tipping point for measles to become a routine household disease again," he said. "The declining routine childhood vaccinations, coupled with increasing vaccine hesitancy, may send us to a place we were working to avoid for decades."

Vaccine Hesitancy and Its Contribution to the Measles Outbreak

The problem of vaccine hesitancy has been a major contributor to the fall in immunization rates. The disinformation regarding the safety and effectiveness of vaccines has instilled fear and confusion, particularly among parents. A KFF survey published in 2025 found that more than half of adults were unsure about whether to believe assertions about the risks of the measles vaccine—assertions that have been magnified by anti-vaccine personalities, such as Robert F. Kennedy Jr.

This widespread misinformation has caused many to doubt the necessity of vaccines for diseases no longer perceived as a threat, like measles. But as recent outbreaks have shown, measles is hardly eradicated and still poses a lethal threat, especially to vulnerable groups like infants, immunocompromised individuals, and the unvaccinated.

Recent measles outbreaks in the U.S. are stark reminders of the risks of low vaccination levels. In 2025 alone, the nation has already seen some 800 cases of measles, the most in a single year since 2019. The largest outbreak took place in West Texas, which had over 620 cases, 64 hospitalizations, and two deaths. These outbreaks are a wake-up call that the U.S. is not immune to outbreaks of this extremely contagious disease.

According to Mathew Kiang, a study co-author, "The impact of waning vaccinations won't be sudden, but the aggregate effect could be devastating. If we do not take action now, we can expect millions of measles cases in the coming years."

What Can Be Done to Prevent a Measles Crisis?

Although the situation is grim, there is hope. Specialists such as Dr. Lo and Kiang propose that even slight increases in vaccination rates could make a significant difference in preventing the spread of measles and other preventable illnesses. A 5 percent boost in vaccination coverage could avert a sharp spike in cases, safeguard vulnerable populations, and ultimately save lives.

Health professionals remind parents to discuss with pediatricians the value of vaccinations and have faith in healthcare professionals' recommendations. Public health officials and policymakers also need to act to address vaccine misinformation and make sure vaccination mandates for school entry are intact.

This study's findings highlight the crucial role that vaccination plays in protecting public health. By potentially preventing millions of cases and countless fatalities, high vaccination coverage needs to be sustained. With the U.S. still struggling to deal with the consequences of declining vaccine coverage, it is vital that both the public and policymakers take proactive measures to ensure that such diseases as measles do not experience a resurgence.

The decision to vaccinate is such a simple choice, but the difference it makes can be gargantuan. It is incumbent on all of us—parents, medical practitioners, and members of society—to take our turn in safeguarding the next generation against the ruining effects of vaccine-preventable diseases. As Dr. Lo highlighted, "Increasing vaccination levels by just 5% can make a world of difference in keeping these diseases at bay."

End of Article
World Malaria Day 2025: Theme, History, and Significance

Credits: Canva

Updated Apr 25, 2025 | 07:00 AM IST

World Malaria Day 2025: Theme, History, And Significance

SummaryOn this day in 2007, for the first time, the presence of malaria was acknowledged globally, and thus came the World Malaria Day, which is now observed every year on April 25. Know what makes it different with its theme this year. Read on.

Every year on 25 April, World Malaria Day is observed to raise awareness about one of the deadliest yet preventable diseases. As per the World Health Organization (WHO), there were 263 million malaria cases and 5,97,000 malaria deaths across 83 countries in 2023. The WHO African Region carries a disproportionately high share of the global malaria burden. As per the numbers, this Region was home to 94% of the malaria cases, accounting for 246 million and 95% of malaria deaths. Children under 5 accounted for about 75% of all malaria deaths in the Region.

Ahead of World Malaria Day, WHO also called for renewed efforts at all levels - from global policy to community action to accelerate progress towards eliminating malaria.

World Malaria Day 2025 Theme

This year, WHO has joined the RBM Partnership to End Malaria and other partners in promoting: "Malaria Ends With US: Reinvest, Reimagine, Reignite". This is a grassroot campaign that aims to re-energize efforts at all levels, from global policy to community action, to accelerate progress towards malaria elimination.

World Malaria Day History

World Malaria Day was first celebrated internationally in 2008, building upon the earlier "Africa Malaria Day", which had been observed b African countries since 2001. The date, April 25, was established by WHO in 2007 during the World Health Assembly. In 2007, it was the 60th session of the World Health Assembly where the proposal to rename Africa Malaria Day to World Malaria Day was made to acknowledge the global presence of malaria.

World Malaria Day Significance

The day has a strong significance in healthcare as it brings attention to the disease that still continues to take so many lives, especially in low-income and tropical regions. It also serves as an important reminder to continue spreading awareness about the disease as well as promoting its prevention, treatment and continuous international cooperation to fight against it.

What Is Malaria?

The WHO describes malaria as a life-threatening disease spread to humans by some types of mosquitoes, mostly found in tropical countries. However, they are preventable and curable.

WHO notes: "Malaria is spread to people through the bites of some infected anopheles mosquitoes. Blood transfusion and contaminated needles may also transmit malaria. The first symptoms may be mild, similar to many febrile illnesses, and difficult to recognize as malaria. Left untreated, P. falciparum malaria can progress to severe illness and death within 24 hours.

There are 5 Plasmodium parasite species that cause malaria in humans, and 2 of these species – P. falciparum and P. vivax – pose the greatest threat. P. falciparum is the deadliest malaria parasite and the most prevalent on the African continent. P. vivax is the dominant malaria parasite in most countries outside of sub-Saharan Africa. The other malaria species which can infect humans are P. malariae, P. ovale and P. knowlesi."

What Are The Symptoms?

The early symptoms are fever, headache and chills, which can usually start within 10 to 15 days of getting bitten by an infected mosquito.

Some types of malaria can cause severe illness and death. Infants, children under 5 years, pregnant women, travellers and people with HIV or AIDS are at higher risk. Severe symptoms include:

  • extreme tiredness and fatigue
  • impaired consciousness
  • multiple convulsions
  • difficulty breathing
  • dark or bloody urine
  • jaundice (yellowing of the eyes and skin)
  • abnormal bleeding

End of Article