Indo-Japanese researchers develop treatment for Duchenne’s Muscular Dystrophy
- July 14, 2023
- Posted by: OptimizeIAS Team
- Category: DPN Topics
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Indo-Japanese researchers develop treatment for Duchenne’s Muscular Dystrophy
Subject : Science and technology
Section: Health
Concept :
- A team of doctors from Tamil Nadu along with scientists from Japan have developed a disease-modifying treatment for Duchenne Muscular Dystrophy (DMD), a rare genetic disease, using a food additive — a beta-glucan produced by N-163 strain of a yeast Aureobasidium pullulans.
Duchenne Muscular Dystrophy (DMD)
- DMD is a progressive muscle degeneration disorder caused by alterations in the dystrophin protein.
- It is the most common and fatal type of muscular dystrophy, primarily affecting boys.
- It leads to progressive muscle degeneration, weakness, and eventually wheelchair dependency, assisted ventilation, and premature death.
Symptoms and Impact of DMD
- Muscle Weakness: Muscle weakness is the primary symptom of DMD, initially affecting proximal muscles and later distal limb muscles. Difficulties in jumping, running, and walking are common.
- Other Symptoms: Enlargement of calves, a waddling gait, lumbar lordosis (inward curve of the spine), and later heart and respiratory muscle involvement. Pulmonary function impairment and respiratory failure may occur.
Current Challenges
- Costly treatment: Current therapeutic options for DMD are minimal and expensive, with costs reaching up to Rs 2-3 crore per child per year.
- Limited Treatment Options: The treatments are predominantly imported, making them financially unattainable for most families.
Efforts to Develop Affordable Therapeutics
Antisense Oligonucleotide (AON)-Based Therapeutics
- The IIT Jodhpur researchers are working on enhancing the efficacy of AON-based therapeutics.
- AONs can mask specific exons in a gene sequence, addressing the challenges faced in DMD patients.
- Personalized medicine is necessary due to the variations in mutations among DMD patients.
Clinical Trials and Molecular Tags
- The research team has received approval from the Drugs Controller General of India (DCGI) to conduct multi-centric clinical trials on AON-based exon skipping in DMD patients.
- They are also working on reducing the therapeutic dose of AON through new molecular tags.