Molecular Genetics Analysis: A Search for the Genetic Cause of Congenital Mysathenic Syndromes
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Congenital myasthenic syndromes (CMS) are rare diseases of neuromuscular impulse transmission that cause weakness and fatigability upon exertion (Engel, 1994). Patients with CMS have genetic defects that either impair neuromuscular transmission directly, or cause secondary alterations at the neuromuscular junction that eventually compromise the safety margin of transmission (Engel, 1994). This research was conducted in order to analyze the DNA of three patients with different CMS in order to find a genetic basis for the symptoms of disease. Genomic DNA was isolated from blood samples of the three patients previously. The sequences encoding the acetylcholine receptor subunits were amplified using polymerase chain reaction (PCR). The amplified products were then screened for mutations using a technique called single-strand conformation polymorphism (SSCP). Sequences with putative mutations were confirmed by direct sequencing, allele-specific PCR or restriction enzyme digestion. Mutations were found in seven different exons of the subunits analyzed in the three patients. All mutations proved to be polymorphisms, or mutations that do not change the encoded amino acid or protein structure. Although none of the mutations found were disease-causing, it is important to find that a patient may have any or all of these mutations without disease. It is also significant that a patient may possibly have congenital myasthenic syndrome without a disease-causing mutation in the genetic DNA encoding the acetylcholine receptor. However, since SSCP is only about 88% accurate as a screening tool for mutational analysis (Hayashi, 1991), this conclusion cannot be made for these three patients without further investigation. New research is currently being conducted for these three patients using cDNA of the acetylcholine receptor subunits, to search for transcription or translation errors as a cause for disease.
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