A new study has revealed an unexpected link between autism and a rare genetic disorder, shedding new light on the causes of autism spectrum disorder (ASD). Scientists have discovered that people with myotonic dystrophy type 1 (DM1) — a rare, inherited neuromuscular disorder — are 14 times more likely to develop autism than the general population.

While autism touches an estimated 7 million Americans, DM1 touches about 140,000, making it far less common. Nevertheless, the discoveries are revolutionizing how scientists think about the genetic structure of autism and revealing possible biological mechanisms that could drive its development.

What Is Genetic Condition Called?

DM1 is an inherited disorder where muscles become weak and progressively lose their strength, muscles tire easily, there are uncontrollable movements of the face or limbs, and there is cognitive impairment. It is a result of DMPK gene mutation where the gene function is compromised by tandem repeat expansions (TREs), which are repetitions of DNA. This generates poisonous RNA that then interferes with the capacity of the body to synthesize crucial proteins in the muscles and the brain.

What is so worrisome about this disorder in the case of autism is that it has an effect on neural development and gene expression within the brain. DM1 may change the way the brain develops connections early in life — an age when developing communication skills, social behavior, and learning habits is most important, all of which are frequently affected in those with autism.

Genetic Insights: Connecting the Dots Between DM1 and Autism

In a comprehensive research conducted by the University of Nevada Las Vegas (UNLV) and published in Nature Neuroscience, scientists compared RNA in 38 sets of genes from people with and without autism. RNA is crucial in gene expression for enabling DNA instructions to be translated into functioning proteins.

The researchers found that when the DMPK gene experiences tandem repeat expansion, the resulting RNA abnormally binds to proteins essential for the splicing of genes — an important process for gene function in brain development. The misbinding depletes proteins and triggers a cascading effect of mis-spliced genes, the majority of which contribute to regulating brain function and development.

This is a new paradigm for how to think about the genetic landscape of autism," said Dr. Ryan Yuen, senior scientist at the Hospital for Sick Children and author of the study. "We now understand that defective RNA has the ability to behave like a sponge, attracting away vital proteins necessary for proper brain development. This may be the reason why DM1 has a connection to the social, behavioral symptoms we identify with ASD."

What is Tandem Repeat Expansions (TREs)?

TREs happen when DNA sections repeat more times than usual, leading to the risk of genetic mistakes. TREs are now found to happen more frequently in people with autism, with previous research by Dr. Yuen that found over 2,500 sites in the genome where TREs disproportionately occurred in ASD-diagnosed individuals.

In DM1, the increased repeats in the DMPK gene disrupt protein regulation throughout the genome. This interference not only leads to muscle weakness and heart disease but also potentially underlies some of the neurological features seen in autism — including repetitive behavior, poor coordination, and sensory sensitivities.

Perhaps the most thrilling implication of this breakthrough is its potential for targeted therapies. Scientists are now investigating how to restore protein balance by either releasing bound toxic RNA-bound proteins or reintroducing critical proteins into the genome. These approaches could lead to precision medicine that targets the genetic dysfunctions underlying both DM1 and ASD directly.

"By knowing the specific molecular pathways that are affected, we can start to create therapies that are really personalized," Dr. Yuen said. "It's no longer about treating autism symptoms—it's about fixing the underlying causes."

As the genetic link between DM1 and autism continues to unravel, yet another recent Chinese study is bringing hope in the guise of a non-surgical brain stimulation method called transcranial pulsed current stimulation (tPCS).

It's a therapy that uses electrodes placed on the scalp to deliver mild electrical impulses into target areas of the brain. In a 20-session trial with children between ages 3 and 14, the ones who got tPCS for four weeks improved significantly in sleep, language, sensory responsiveness, and social interaction. While still in the experimental stage, it promises that brain modulation technology could supplement genetic treatments for ASD in the future.

The sense of urgency is also heightened by the newest CDC statistics, which say that 1 in 31 children in the U.S. is now diagnosed with autism a rate that has skyrocketed from 1 in 150 in the early 2000s. Although some attribute the increase to improved screening and awareness, others think that environmental toxins, including exposure to pesticides, food additives, or too many ultrasound scans, could be playing a role.

Whatever the reason, what's certain is that autism is no longer an either-or condition that can be treated with blanket solutions. The connection between DM1 and ASD has made it necessary for all diagnostics and therapies to be based on the most advanced genetic knowledge.

A recent study published in Blood Advanced has reaffirmed the long-term safety effectiveness of hydroxyurea. This is an oral chemotherapy drug, which is used to manage sickle disease (SCD) in children. The findings have given a new hope and reassurance to families and caregivers who are trying to wade the waters of this chronic condition.

What Is Sickle Cell Disease?

As per the National Heart, Lung, and Blood Institute, sickle cell disease, also known as sickle cell anemia, is a group of inherited disorders that affect hemoglobin. Hemoglobin is the major protein that carries oxygen in the red blood cells. Usually, red blood cells are disc-shaped and flexible, so they can easily move around the blood vessels. However, in this condition, the red blood cells are misshaped, like a crescent, or "sickle", which is where the disease gets its name from. This happens due to a gene mutation that affects hemoglobin molecule. When red blood cells sickle, they do not bend or move easily and thus can block blood flow to the rest of the body.

People with sickle cell disease could experience onset of strong episodes of pain, also called pain crises.

How Will Hydroxyurea Change The Conditions Of Those With Sickle Cell Disease?

Hydroxyurea, originally developed as a chemotherapy drug, is now a cornerstone in the treatment of SCD. It is taken orally once a day and works by helping red blood cells maintain a more normal, flexible, and round shape. This reduces the likelihood of blockages in the blood vessels.

According to St. Jude Children’s Research Hospital, the drug also helps reduce pain crises, lowers the need for blood transfusions, improves anemia, and cuts down the risk of potentially fatal complications like blood clots in the lungs. Given these benefits, federal guidelines recommend offering hydroxyurea to children with severe SCD starting as early as 9 to 12 months of age.

What Did The Study Find?

The study was conducted by the researchers at Emory University School of Medicine. The study analyzed 2,147 children with sickle cell disease and tracked them between 2010 to 2021. These kids were being treated at the Children's Hospital of Atlanta. Among them, 58% had been prescribed hydroxyurea. The average treatment duration was five years, with some children age 8 or older on continuous therapy throughout the study period.

What Were The Key Findings?

The study found that children who took hydroxyurea had fewer emergency room visits. They also spent fewer days in the hospital as compared to those who did not take the drug. Furthermore, the benefits remained even when researchers adjusted for disease severity and medication adherence.

Dr. Paul George, lead author of the study, emphasized, “Our results reinforce that hydroxyurea...continues to have really important benefits over time for pediatric patients.”

Addressing Safety Concerns

Despite its proven effectiveness, hydroxyurea has faced skepticism due to its origins as a chemotherapy drug. “There have always been some lingering fears about its safety and efficacy, especially for children,” explained Dr. Wilbur Lam, co-author of the study.

However, the long-term data from this study helps to dispel these concerns. Lam added, “This study can provide some reassurance...that this therapy...continues to be a safe option with a true benefit outside of a controlled setting.”

A recent study published in JAMA Psychiatry, titled, Convergence of Cannabis and Psychosis on the Dopamine System, has identified a direct biological link between cannabis use disorder and an increased risk of psychosis. The research shows that those who heavily use marijuana may have elevated levels of the hormone dopamine in regions of the brain associated with psychosis. This happens especially in the substantia nigra (SN) and ventral tegmental areas (VTA). These are both midbrain structures, crucial for dopamine-related functions, which include motor control, reward processing, and motivation. While they both release dopamine, they have distinct roles and connect to different brain regions. The SN primarily contributes to motor control, while the VTA plays a significant role in reward and motivation.

What Is The Role Of Dopamine In Your Brain?

Dopamine is a key neurotransmitter responsible for regulating mood, motivation, learning, and motor control. An imbalance—particularly excessive dopamine—can disrupt normal brain functions and increase susceptibility to psychiatric conditions, including psychosis.

“Excess levels of dopamine can disrupt normal brain processes and may increase the risk of psychosis, particularly in individuals who are already vulnerable,” explained study co-author Betsy Schaefer, a senior manager of clinical research operations at the London Health Sciences Center Research Institute in Ontario.

How Was The Study Conducted?

In order to look into the connection between cannabis use and dopamine, the researcher used an advanced MRI technique to monitor neuromelanin deposits in the brain. What exactly is neuromelanin? It is a substance that builds up over time as dopamine is broken down. As per a 2016 study published in Trends in Cognitive Sciences, titled The Locus Coeruleus: Essential for Maintaining Cognitive Function and the Aging Brain, neuromelanin plays both roles, as a neuroprotective and neurotoxic roles. It is a pigment which is produced in dopamine-producing neurons and while it can help protect against oxidative stress and excess metals, it can also accumulate and contribute to neuronal damage and disease progressions. These deposits appear as black spots in MRI scans and serve as indicators of dopamine activity.

The study also included 25 individuals who were diagnosed with cannabis use disorder and 36 control participants without the disorder. The researchers were able to find that participants who heavily used cannabis had noticeable neuromelanin deposits in specific regions of the midbrain than their counterparts.

“In people partaking in excess cannabis use, those spots are blacker than what they should be for their age compared to healthy individuals,” said senior researcher Dr. Lena Palaniyappan, adjunct professor at Western University’s Schulich School of Medicine & Dentistry. “This indicates they have high levels of dopamine, and in some cases are showing pigments someone 10 years older would have.”

he key brain regions showing increased dopamine activity—the substantia nigra and ventral tegmental area—have long been linked to the onset of psychosis. According to researcher Ali Khan, assistant professor at Western University, these darker areas were observed in cannabis users regardless of whether they had experienced a first episode of schizophrenia.

“This increase was seen in those with cannabis use disorder regardless of whether they have first-episode schizophrenia,” Khan noted.

With Canada having legalized recreational cannabis use six years ago, the study underscores growing concerns about its long-term mental health impact, particularly on young users.

The US Food and Drug Administration (FDA) and pharmaceutical company Novo Nordisk are now in an attempt to making more people aware over counterfeit Ozempic (semaglutide) injection pens. These have already penetrated the American drug supply chains. Authorities have also confirmed that several hundred units of the fake products, especially Ozempic injection 1mg are being circulated with a lot number PAR0362 and fake serial numbers beginning with 51746517.

While PAR0362 is a legitimate lot number, any combination with the aforementioned serial sequence is considered counterfeit.

FDA and novo Nordisk are also in the process of testing the counterfeit products, while they have not been disclosed about their identity, quality or safety substances used inside. However, as of now, six adverse events have been reports to FDA which are related to this lot. Though, they have not yet been conclusively tied to the counterfeit versions.

What Does Fake Ozempic Contain?

Experts have earlier also warned about the counterfeit Ozempic and how it can pose health threats. In 2023, three people in the US were hospitalized after unknowingly consuming fake Ozempic. It contained inulin glargine, instead of semgalutide. All three suffered severe hypoglycemia, which is a potentially, life-threatening condition. Cases were also reported from the same regional poison control center, which suggested a concentrated source.

What Could Happen If You Consume Fake Ozempic?

Hypoglycemic Shock: Characterized by trembling, sweating, and heart palpitations due to dangerously low blood sugar levels.

Coma: Severe cases of hypoglycemia can induce unconsciousness, requiring emergency care.

Infections: Resulting from unsterile injections, leading to swelling, fever, and potential sepsis.

Seizures: Caused by extreme drops in blood sugar due to insulin presence in the fake medication.

In fact, last year, on June 19, the World Health Organization (WHO) also issued a global alert warning of counterfeit semgalutide products. Three falsified batches of Ozempic have been identified in Brazil, the U.K., Northern Ireland (October 2023), and the U.S. (December 2023). Since 2022, WHO’s Global Surveillance and Monitoring System (GSMS) has tracked a sharp rise in such cases.

Dr. Yukiko Nakatani, WHO Assistant Director-General for Access to Medicines and Health Products, urged healthcare professionals and consumers to stop using suspicious medicines and report them to regulatory authorities.

ALSO READ: These Foods Can Mimic The Effects of Ozempic

Surging Demand And Black Market Sales

Ozempic and other GLIP-1 agonists such as Wegovy and Saxenda have gained popularity due to its efficacy in managing type 2 diabetes and its weight loss affects. As per research, weight loss exceeding 15% of body mass can have disease-modifying effects in T2D patients. However, this surge in demand has led to widespread shortages and a black market for counterfeit drugs.

Public health expert Dr. Jagdish Khubchandani of New Mexico State University said the high demand and lack of awareness have created “an opportunity for unscrupulous actors to profit,” especially targeting those seeking weight loss without medical supervision.

Is There A Way To Spot Fake Ozempic?

According to Novo Nordisk and the FDA, consumers should examine their Ozempic packaging and pens for:

• Misspelled words
• Incorrect colors
• Missing National Drug Code
• Poor label quality
• Dose counter errors