Duchenne’s Muscular Dystrophy

Why in news?

 

• Doctors from Tamil Nadu along with scientists from Japan have developed a disease-modifying treatment by using a food additive a beta-glucan produced by N-163 strain of a yeast Aureobasidium pullulans.

 

Key facts about Duchenne’s Muscular Dystrophy: 

• It is a rare genetic disorder.
• It was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860.
• It is characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact. 
• It is a multi-systemic condition, affecting many parts of the body, which results in deterioration of the skeletal, heart, and lung muscles.
• The dystrophin gene is found on the X-chromosome, it primarily affects males, while females are typically carriers. 
• Symptoms
  • It can begin as early as age 2 or 3, first affecting the proximal muscles (those close to the core of the body) and later affecting the distal limb muscles (those close to the extremities).
  • Usually, the lower external muscles are affected before the upper external muscles.
  • The affected child might have difficulty jumping, running, and walking.
  • Other symptoms include enlargement of the calves, a waddling gait, and lumbar lordosis (an inward curve of the spine).
  • Later on, the heart and respiratory muscles are affected as well.
• Treatments: Presently available treatments are gene therapy, exon skipping, stop codon read-through and gene repair.

 

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Q1) What is a chromosome?

A chromosome is a thread-like structure made up of DNA molecules that carry the genetic information in the form of genes. Chromosomes are found in the nucleus of most cells in an organism's body. They are visible under a microscope during certain stages of cell division, such as mitosis and meiosis.

Source: Indo-Japanese researchers develop ‘disease-modifying’ treatment for Duchenne’s Muscular Dystrophy