Human DMD Knockout Cell Line-HeLa

The dystrophin gene (DMD) is one of the longest known human genes, spanning approximately 2.4 megabases of DNA sequence. The DMD gene is located on the X chromosome at the Xp21.2 locus and is responsible for encoding dystrophin, a key protein involved in the structural integrity of muscle cells. Dystrophin is a key component of a protein complex that connects the internal cytoskeleton of the muscle fiber to the surrounding extracellular matrix through the cell membrane. This connection is essential for maintaining muscle cell stability during cycles of contraction and relaxation.

Mutations in the DMD gene can cause muscular dystrophies, a group of muscle wasting disorders, the most severe of which is Duchenne muscular dystrophy (DMD). Duchenne muscular dystrophy affects approximately 1 in 3,500 to 5,000 live male births worldwide as it primarily affects males due to its X-linked recessive inheritance pattern. Females can be carriers of the mutation and may display milder symptoms. Loss or dysfunction of dystrophin due to the mutation leads to progressive muscle degeneration, resulting in symptoms such as muscle weakness, walking impairment, and severe cardiopulmonary complications. Early diagnosis is often facilitated by symptoms observed in early childhood, elevated serum creatine kinase levels, and genetic testing.