| 摘要 |
<p>PROBLEM TO BE SOLVED: To provide a new index useful in confirming the diagnosis of Leigh syndrome, many of the genetic causes of which are still unclear.SOLUTION: The inventors diligently performed mutation analysis of the genes in a Japanese family of a non-consanguineous marriage which includes patients with a new type of Leigh syndrome which has such characteristics that it is not associated with elevated levels of lactic acid and pyruvic acid, unlike usual Leigh syndrome, and is associated with ketonemia. As a result, the inventors identified the Glycogenin 2 (GYG2) gene, which is located on an X chromosome and involved in glycogen biosynthesis, as the responsible gene of the new type of Leigh syndrome. Patients with the new type of Leigh syndrome have a harmful mutation of the GYG2 gene which is hemizygous, homozygous, or compound heterozygous, and gene carriers have a harmful mutation of the GYG2 gene which is heterozygous.</p> |
