Mitochondrial dna mutations that segregate with late onset...

Details Mitochondrial dna mutations that segregate with late onset... Mitochondrial dna mutations that segregate with late onset...

C - Chemistry, Metallurgy

12

Q

C12Q 1/68 (2006.01)

Patent

CA 2268949

The present invention relates to genetic mutations in mitochondrial genes that segregate with diabetes mellitus. The invention provides methods for detecting such mutations, as a diagnostic for diabetes mellitus, either before or after the onset of clinical symptoms. Examples of specific mutations in the mitochondrial ATP synthase 8/6 gene and tRNALys gene are given. The invention also provides treatments for dysfunctions due to mitochondrial genes that segregate with diabetes mellitus. Cybrid cell lines are described which are useful as model systems for the study of the mitochondrial metabolic disorders that are associated with diabetes mellitus, and for identifying therapeutic compounds and treatments for this disease.

La présente invention a trait à des mutations génétiques dans des gènes mitochondriaux, lesquels s'isolent lors de diabète sucré. Cette invention prévoit des procédés destinés à la détection de telles mutations, utiles en tant que diagnostic du diabète sucré, soit avant soit après l'apparition de symptômes cliniques. Des exemples de mutations spécifiques du gène mitochondrial d'ATP synthase 8/6 et du gène tARN<Lys> sont donnés. Cette invention prévoit également des traitements de dysfonctionnements dus à des gènes mitochondriaux qui s'isolent lors de diabète sucré. Des lignées cellulaires de cybrides sont décrites, lesquelles sont utiles en tant que systèmes modèles pour l'étude de troubles métaboliques mitochondriaux associés à un diabète sucré, et pour l'identification de composés et de traitements thérapeutiques de cette maladie.

Affiliated with

Also associated with

Rating

Mitochondrial dna mutations that segregate with late onset... does not yet have a rating. At this time, there are no reviews or comments for this patent.

If you have personal experience with Mitochondrial dna mutations that segregate with late onset..., we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Mitochondrial dna mutations that segregate with late onset... will most certainly appreciate the feedback.

Rate now

Comments { 0 }

Profile ID: LFCA-PAI-O-1803367