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

摘要

The present invention provides a RAPGEF2, IFT80, SSH2, XRCC3, SPAG17, PLEKHM2, CLEC4C, FRAS1, ADGRL3, PSEN1 mutant gene and mutant protein as markers for amyotrophic lateral sclerosis, and a method for diagnosing amyotrophic lateral sclerosis by using the same. An amyotrophic lateral sclerosis marker of the present invention is a new mutation discovered from a Korean ALS patient, is a very rare mutation shown at a frequency of less than 0.1% in a conventionally reported database or a mutation which has not been reported, and is a mutation which is not discovered in a normal control group. A mutant gene discovered in the present invention and/or a mutant protein coded therefrom can be very useful in finding genetic causes of ALS and diagnosing ALS. Gene or protein inspection is performed with respect to a mutant gene discovered in the present invention and/or a mutant protein coded therefrom, so amyotrophic lateral sclerosis can be early diagnosed. Also, a suitable treating method is early applied, and a treating effect can be maximized. Moreover, customized treatment according to accurate disease causes can be performed.