MEANS AND METHODS FOR DIAGNOSING ATGL RELATED DISORDERS

摘要

The present invention relates to methods of diagnosing a disease (or a predisposition for a disease) related to the presence of a molecular variant of the adipose triglyceride lipase (ATGL) gene comprising determining in a sample from a subject the presence of at least one nucleic acid comprising a mutation in the 5'UTR, exons, introns or 3'UTR of the ATGL gene. Moreover, the present invention relates to a nucleic acid molecule comprising a nucleotide sequence encoding an adipose triglyceride lipase and comprising one or more of the mutations in the 5'UTR, exons, introns or 3'UTR of the ATGL gene. Furthermore, a diagnostic composition comprising the aforementioned nucleic acid molecule is envisaged by the present invention.