Nemaline Myopathy is a rare genetic disorder that affects the muscles, causing muscle weakness and impaired muscle function. It is characterized by the presence of thread-like structures called nemaline bodies within the muscle fibers. These nemaline bodies disrupt the normal functioning of the muscles, leading to various symptoms.
The exact causes of Nemaline Myopathy are not fully understood, but it is primarily considered a genetic disorder. Several genetic mutations have been identified as potential causes of the condition. These mutations can occur in different genes that are involved in muscle development and function.
One of the most common genetic mutations associated with Nemaline Myopathy is a mutation in the NEB gene, which provides instructions for the production of a protein called nebulin. Nebulin plays a crucial role in the structure and function of muscle fibers. Mutations in the NEB gene can lead to the production of an abnormal or nonfunctional nebulin protein, resulting in the formation of nemaline bodies within the muscle fibers.
Other genetic mutations that have been linked to Nemaline Myopathy include mutations in the ACTA1, TPM2, TPM3, and CFL2 genes. These genes also play important roles in muscle development and function. Mutations in these genes can disrupt the normal structure and function of muscle fibers, leading to the formation of nemaline bodies.
Nemaline Myopathy can be inherited in different ways, depending on the specific genetic mutation involved. It can be inherited in an autosomal dominant manner, where a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. It can also be inherited in an autosomal recessive manner, where a person needs to inherit two copies of the mutated gene, one from each parent, to develop the condition.
In some cases, Nemaline Myopathy can also occur sporadically, without a family history of the condition. Sporadic cases may be caused by new genetic mutations that occur randomly during the formation of reproductive cells or early embryonic development.
It is important to note that while genetic mutations are the primary cause of Nemaline Myopathy, other factors may also influence the severity and progression of the condition. These factors may include environmental factors, individual variations in gene expression, and interactions between different genes.