Medical Dialogues
  • Dermatology
Login Register
This site is intended for healthcare professionals only
Login Register
  • MD Brand Connect
  • Vaccine Hub
  • MDTV
    • Breaking News
    • Medical News Today
    • Health News Today
    • Latest
    • Journal Club
    • Medico Legal Update
    • Latest Webinars
    • MD Shorts
    • Health Dialogues
  • Fact Check
  • Health Dialogues
Medical Dialogues
  • Medical News & Guidelines
      • Anesthesiology
      • Cardiology and CTVS
      • Critical Care
      • Dentistry
      • Dermatology
      • Diabetes and Endocrinology
      • ENT
      • Gastroenterology
      • Medicine
      • Nephrology
      • Neurology
      • Obstretics-Gynaecology
      • Oncology
      • Ophthalmology
      • Orthopaedics
      • Pediatrics-Neonatology
      • Psychiatry
      • Pulmonology
      • Radiology
      • Surgery
      • Urology
      • Laboratory Medicine
      • Diet
      • Nursing
      • Paramedical
      • Physiotherapy
  • Health news
      • Doctor News
      • Government Policies
      • Hospital & Diagnostics
      • International Health News
      • Medical Organization News
      • Medico Legal News
      • NBE News
      • NMC News
  • Fact Check
      • Bone Health Fact Check
      • Brain Health Fact Check
      • Cancer Related Fact Check
      • Child Care Fact Check
      • Dental and oral health fact check
      • Diabetes and metabolic health fact check
      • Diet and Nutrition Fact Check
      • Eye and ENT Care Fact Check
      • Fitness fact check
      • Gut health fact check
      • Heart health fact check
      • Kidney health fact check
      • Medical education fact check
      • Men's health fact check
      • Respiratory fact check
      • Skin and hair care fact check
      • Vaccine and Immunization fact check
      • Women's health fact check
  • AYUSH
    • Ayurveda
    • Homeopathy
    • Siddha
    • Unani
    • Yoga
  • State News
      • Andaman and Nicobar Islands
      • Andhra Pradesh
      • Arunachal Pradesh
      • Assam
      • Bihar
      • Chandigarh
      • Chattisgarh
      • Dadra and Nagar Haveli
      • Daman and Diu
      • Delhi
      • Goa
      • Gujarat
      • Haryana
      • Himachal Pradesh
      • Jammu & Kashmir
      • Jharkhand
      • Karnataka
      • Kerala
      • Ladakh
      • Lakshadweep
      • Madhya Pradesh
      • Maharashtra
      • Manipur
      • Meghalaya
      • Mizoram
      • Nagaland
      • Odisha
      • Puducherry
      • Punjab
      • Rajasthan
      • Sikkim
      • Tamil Nadu
      • Telangana
      • Tripura
      • Uttar Pradesh
      • Uttrakhand
      • West Bengal
  • Medical Education
      • Ayush Education News
      • Dentistry Education News
      • Medical Admission News
      • Medical Colleges News
      • Medical Courses News
      • Medical Universities News
      • Nursing education News
      • Paramedical Education News
      • Study Abroad
  • Industry
      • Health Investment News
      • Health Startup News
      • Medical Devices News
      • Pharma News
      • Pharmacy Education News
      • Industry Perspective
  • MDTV
      • Health Dialogues MDTV
      • Health News today MDTV
      • Latest Videos MDTV
      • Latest Webinars MDTV
      • MD shorts MDTV
      • Medical News Today MDTV
      • Medico Legal Update MDTV
      • Top Videos MDTV
      • Health Perspectives MDTV
      • Journal Club MDTV
      • Medical Dialogues Show
This site is intended for healthcare professionals only
LoginRegister
Medical Dialogues
LoginRegister
  • Home
  • Medical news & Guidelines
    • Anesthesiology
    • Cardiology and CTVS
    • Critical Care
    • Dentistry
    • Dermatology
    • Diabetes and Endocrinology
    • ENT
    • Gastroenterology
    • Medicine
    • Nephrology
    • Neurology
    • Obstretics-Gynaecology
    • Oncology
    • Ophthalmology
    • Orthopaedics
    • Pediatrics-Neonatology
    • Psychiatry
    • Pulmonology
    • Radiology
    • Surgery
    • Urology
    • Laboratory Medicine
    • Diet
    • Nursing
    • Paramedical
    • Physiotherapy
  • Health news
    • Doctor News
    • Government Policies
    • Hospital & Diagnostics
    • International Health News
    • Medical Organization News
    • Medico Legal News
    • NBE News
    • NMC News
  • Fact Check
    • Bone Health Fact Check
    • Brain Health Fact Check
    • Cancer Related Fact Check
    • Child Care Fact Check
    • Dental and oral health fact check
    • Diabetes and metabolic health fact check
    • Diet and Nutrition Fact Check
    • Eye and ENT Care Fact Check
    • Fitness fact check
    • Gut health fact check
    • Heart health fact check
    • Kidney health fact check
    • Medical education fact check
    • Men's health fact check
    • Respiratory fact check
    • Skin and hair care fact check
    • Vaccine and Immunization fact check
    • Women's health fact check
  • AYUSH
    • Ayurveda
      • Ayurveda Giuidelines
      • Ayurveda News
    • Homeopathy
      • Homeopathy Guidelines
      • Homeopathy News
    • Siddha
      • Siddha Guidelines
      • Siddha News
    • Unani
      • Unani Guidelines
      • Unani News
    • Yoga
      • Yoga Guidelines
      • Yoga News
  • State News
    • Andaman and Nicobar Islands
    • Andhra Pradesh
    • Arunachal Pradesh
    • Assam
    • Bihar
    • Chandigarh
    • Chattisgarh
    • Dadra and Nagar Haveli
    • Daman and Diu
    • Delhi
    • Goa
    • Gujarat
    • Haryana
    • Himachal Pradesh
    • Jammu & Kashmir
    • Jharkhand
    • Karnataka
    • Kerala
    • Ladakh
    • Lakshadweep
    • Madhya Pradesh
    • Maharashtra
    • Manipur
    • Meghalaya
    • Mizoram
    • Nagaland
    • Odisha
    • Puducherry
    • Punjab
    • Rajasthan
    • Sikkim
    • Tamil Nadu
    • Telangana
    • Tripura
    • Uttar Pradesh
    • Uttrakhand
    • West Bengal
  • Medical Education
    • Ayush Education News
    • Dentistry Education News
    • Medical Admission News
    • Medical Colleges News
    • Medical Courses News
    • Medical Universities News
    • Nursing education News
    • Paramedical Education News
    • Study Abroad
  • Industry
    • Health Investment News
    • Health Startup News
    • Medical Devices News
    • Pharma News
      • CDSCO (Central Drugs Standard Control Organisation) News
    • Pharmacy Education News
    • Industry Perspective
  • Home
  • Cardiology-CTVS
  • Cardiology & CTVS News
  • First oral drug shows...

First oral drug shows promise for Barth syndrome heart and muscle symptoms in new study

Dr. Prem AggarwalWritten by Dr. Prem Aggarwal Published On 2025-07-02T22:00:42+05:30  |  Updated On 19 July 2025 1:51 PM IST
First oral drug shows promise for Barth syndrome heart and muscle symptoms in new study
  • facebook
  • twitter
  • linkedin
  • whatsapp
  • Telegram
  • Email

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.

The FASEB JournalBarth syndromeMA-5heart transplant
Source : The FASEB Journal
Dr. Prem Aggarwal
Dr. Prem Aggarwal

Dr Prem Aggarwal, (MD Medicine, DNB Cardiology) is a Cardiologist by profession and also the Co-founder and Chairman of Medical Dialogues. He focuses on news and perspectives about cardiology, and medicine related developments at Medical Dialogues. He can be reached out at drprem@medicaldialogues.in

Show Full Article
Next Story

Editorial

Uncontrolled T2D in India: Valuable Consideration for Dapagliflozin Sitagliptin Combination

Uncontrolled T2D in India: Valuable Consideration for Dapagliflozin Sitagliptin Combination

JAPI Releases Dedicated Supplement Addressing Clinical Needs for Adult Vaccination in India

JAPI Releases Dedicated Supplement Addressing Clinical Needs for Adult Vaccination in India

Cuticapil Stem Hair Serum as Add-On to Minoxidil Shows Superior Hair Growth in Androgenetic Alopecia : Indian Real World Data

Cuticapil Stem Hair Serum as Add-On to Minoxidil Shows Superior Hair Growth in Androgenetic Alopecia...

Prediabetes and MASLD : An Overlapping Spectrum of Metabolic Risk

Prediabetes and MASLD : An Overlapping Spectrum of Metabolic Risk

Bisoprolol in CAD - Key Insights from National Consensus 2025 with Special Focus on Women

Bisoprolol in CAD - Key Insights from National Consensus 2025 with Special Focus on Women

View All

Journal Club Today

Why Grapes Might Deserve a Spot Among Superfoods? Study Explores

Why Grapes Might Deserve a Spot Among Superfoods? Study Explores

View All

Health News Today

Health Bulletin 26/July/ 2025

Health Bulletin 26/July/ 2025

View All
© 2022 All Rights Reserved.
Powered By: Hocalwire
X
We use cookies for analytics, advertising and to improve our site. You agree to our use of cookies by continuing to use our site. To know more, see our Cookie Policy and Cookie Settings.Ok