Genetics of Neurological/Neuromuscular Disorders The genetic basis: what gene or genes are involved Environmental factors: external factors that make the underlying genetics more difficult to understand or manipulate A description of the scientific methods that are used to address the problem A discussion of social, political, and/or ethical factors that enhance or diminish our ability to deal with the genetic problem.
Genetics of Neurological/Neuromuscular Disorders
- The genetic basis: what gene or genes are involved
- Environmental factors: external factors that make the underlying genetics more difficult to understand or manipulate
- A description of the scientific methods that are used to address the problem
- A discussion of social, political, and/or ethical factors that enhance or diminish our ability to deal with the genetic problem.
Neuromuscular disorders include many disorders that affect motor and sensory nerves that is peripheral nervous system which connects central nervous system (brain and spinal cord) to the other body parts. These disorders are characterized by progressive muscle weakness and consequent disability in doing activities of daily living.
For example: Muscular dystrophy , here I am discussing Duchenne Muscular dystrophy( DMD)
Duchenne Muscular dystrophy( DMD) , It is the most common type of muscular dystrophy, it is inherited mainly in boys. There is rapidly progressive muscle weakness and degeneration of muscle fibers.
1. Genetic basis of DMD
It is Sex linked recessive disorder, mothers act as Carriers for mutant gene at locus Xp21 and pass down to their sons, as males have only one copy of X chromosome,they will be affected.
DMD is caused by mutation in the gene which is responsible for the protein called dystrophin. The protein helps in maintaining cell membrane of muscle fibers. There is absence of dystrophin in DMD patients, therefore normal physiology of muscle fibers lost ,and they burst that results in rapid degeneration of muscles.
2. Environmental factors:
DMD runs un families as X linked recessive disorder, there are less external factors that contribute to its development. But there are other factors that may indicate development of DMD such as poor economic status that leads to low BMI, living in polluted area that leads to poor lung function and increase eisk of developing cardiopulmonary complications. Consumption of polluted water having heavy metals that may results in mutation in the gene that code for dystrophin.
Therefore these environmental conditions makes it difficult to understand the genetics behind DMD as there is no cure for DMD. Patients suffering from DMD generally die at the age of 14 or early depending on their environmental factors that may increase or decrease their life span.
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