Mutant Genes as Diagnosis Marker for Amyotrophic Lateral Sclerosis and Diagnosis Method Using the Same

摘要

The present invention provides RAPGEF2 , IFT80 , SSH2 , XRCC3 , SPAG17 , PLEKHM2 , CLEC4C , FRAS1 , ADGRL3 , PSEN1 mutant genes and mutant proteins as markers for amyotrophic lateral sclerosis and methods for diagnosing amyotrophic lateral sclerosis. The Amyotrophic Lateral Sclerosis Marker of the present invention is a new mutation found in Korean ALS patients and is a very rare or unreported variation with a frequency of less than 0.1% in a previously reported database and is not found in a normal control group. . The mutant genes and / or mutant proteins encoded therefrom found in the present invention can be very useful for identifying the genetic cause of ALS and diagnosing ALS. By performing a gene or protein test on the mutant gene and / or the mutant protein encoded therein found in the present invention, it is possible to diagnose atrophic lateral sclerosis early and maximize the therapeutic effect by applying an appropriate treatment method early. In addition, it can be possible to tailor the treatment according to the exact etiology.