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Researchers at Tohoku University have discovered that an oral drug called MA-5 can improve both heart and muscle problems in Barth syndrome, a rare genetic disorder affecting 1 in 300,000 births worldwide with no current cure.

Barth syndrome is caused by mutations in the TAZ gene that leave patients-mostly young boys-with weakened hearts, muscle fatigue, and increased rates of infection. Many require heart transplants, and current treatments only manage symptoms without addressing the underlying cause.

The research team, led by Professors Takaaki Abe, and Takafumi Toyohara, and first author Yoshiyasu Tongu, tested MA-5 on cells from four Barth syndrome patients and in fruit fly (Drosophila) models of the disease. Published in The FASEB Journal on June 21, 2025, their findings reveal that MA-5 boosted cellular energy (ATP) production by up to 50% and protected cells from oxidative stress-induced death.

“What excites us most is that MA-5 works by targeting the fundamental problem in Barth syndrome-defective energy production in mitochondria,” explains Abe. “Unlike current treatments that only manage symptoms, MA-5 actually improves the root cause of how cells generate energy.”

MA-5 was chosen as a treatment because it enhances interactions between two crucial mitochondrial proteins-mitofilin and ATP synthase-leading to more efficient energy production. As such, this mechanism directly addresses the cause of cellular dysfunction in Barth syndrome.

In human muscle cells derived from Barth syndrome iPS cell models, MA-5 corrected abnormal mitochondrial structures and reduced cellular stress markers. When tested in Drosophila with Barth syndrome, the drug dramatically improved their climbing ability (capacity for physical exertion) and normalized their elevated heart rates-two key symptoms that mirror how the disease affects humans. Furthermore, MA-5 restored normal mitochondrial structure in the Drosophila muscle tissue.

These promising results suggest that MA-5 addresses the largest challenges faced by patients with Barth syndrome, which would significantly improve their quality of life. Phase I clinical trials in Japan have been completed successfully, and the research team is preparing to start Phase II trials soon.

“We’ve validated MA-5 using patient cells, iPS cell models and a Drosophila model of Barth syndrome,” remarks Abe. “The evidence from all of these studies supports its potential effectiveness in patients with Barth syndrome, which we hope to examine more in the next clinical trial.”

Considering the limited options for treatment currently available, this research provides hope for a better future for patients and their families. Critically, MA-5 can be taken orally, which makes administration significantly easier for pediatric patients. It is the first oral medication for Barth syndrome to progress to the clinical trial stage.

The team’s findings suggest that MA-5 could become the first disease-modifying treatment for Barth syndrome, offering new therapeutic options beyond current symptomatic management.

Reference:

Yoshiyasu Tongu, Tomoko Kasahara, Tetsuro Matsuhashi, Yoshitsugu Oikawa, Ryota Akimoto, Yuhan Luo, Sayaka Sekine, Momoka Suzuki, Hitomi Kashiwagi, Shinichiro Kanno, Mitochondria-Homing Drug Mitochonic Acid 5 Improves Barth Syndrome Myopathy in a Human-Induced Pluripotent Stem Cell Model and Barth Syndrome Drosophila Model,  The FASEB Journal, https://doi.org/10.1096/fj.202401856RRR.

Spending too much time on screens may cause emotional and behavioral problems in children-and those problems can lead to even more screen use, according to research published by the American Psychological Association.

Conducted by an international team of researchers, the study systematically reviewed and meta-analyzed 117 studies, encompassing data from over 292,000 children worldwide. The findings were published in the journal Psychological Bulletin.

“Children are spending more and more time on screens, for everything from entertainment to homework to messaging friends,” said Michael Noetel, PhD, an associate professor in the School of Psychology at Queensland University and one of the authors of the study. “We found that increased screen time can lead to emotional and behavioral problems, and kids with those problems often turn to screens to cope.”

Noetel and his colleagues conducted a meta-analysis to better understand the relationship between screen time and socio-emotional problems, like aggression, anxiety, or low self-confidence. They included any study with participants under 10 years of age that measured screen use and socio-emotional problems, where children were followed-up for at least six months. Screen-based activities included social media, video games, TV watching and online homework.

Most of the studies were conducted in the United States (41 studies), followed by Canada (13), Australia (11), and Germany and the Netherlands (7 each).

The study revealed that the more children engaged with electronic screens the more likely they were to develop socio-emotional problems. This included both internalizing problems, such as anxiety and depression, and externalizing problems, such as aggression and hyperactivity. Conversely, children experiencing socio-emotional problems were found to be more likely to turn to screens as a coping mechanism.

The researchers identified several factors that may moderate these relationships. Compared with younger children (ages 0-5), older children (ages 6-10) were more likely to develop socio-emotional problems with greater screen use. Girls were generally more susceptible to developing socio-emotional problems with greater screen use, while boys were more likely to increase screen use when facing socio-emotional challenges.

The type of screen content and purpose of screen use also played a role, according to Noetel. Gaming was associated with higher risks compared with educational or recreational screen use. Children experiencing socio-emotional problems were also more likely to turn to games to cope.

The findings suggest parents might want to be cautious about what screens they allow and use parental controls to manage time, said Noetel. He also noted that kids who use screens heavily might need emotional support, not just restrictions. Parents could benefit from programs helping them handle both screen use and emotional problems.

“This comprehensive study highlights the need for a nuanced approach to managing children’s screen time,” said lead author Roberta Vasconcellos, PhD, a lecturer at the University of New South Wales who conducted the research while a doctoral student at Australian Catholic University. “By understanding the bidirectional relationship between screen use and socio-emotional problems, parents, educators and policymakers can better support children’s healthy development in an increasingly digital world.”

Because every study in the meta-analysis followed kids over time, the research is a big step closer to cause‑and‑effect (as opposed to correlation) than the usual snapshots done at a single point in time, according to Noetel.

“It’s about as close as we can get to causal evidence without randomly cutting screens for thousands of kids,” he said. “But still, we can’t completely rule out other factors—like parenting style-that could influence both screen use and emotional problems.”

Reference:

Roberta Pires Vasconcellos, Taren Sanders, Chris Lonsdale, Philip Parker, James Conigrave, Samantha Tang, Borja del Pozo Cruz, Electronic Screen Use and Children’s Socioemotional Problems: A Systematic Review and Meta-Analysis of Longitudinal Studies, Psychological Bulletin, DOI: 10.1037/bul0000468