Muteins of the pyrroline-5-carboxylate reductase 1

a technology of pyrroline and carboxylate, which is applied in the field of mutations of the pyrroline-5-carboxylate reductase, can solve the problems of difficult diagnosis in these conditions, progeroid appearance of affected individuals,

Inactive Publication Date: 2012-06-07
AGENCY FOR SCI TECH & RES
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  • Application Information

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Problems solved by technology

In some monogenetic diseases, these changes occur prematurely resulting in a progeroid appearance of

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  • Muteins of the pyrroline-5-carboxylate reductase 1
  • Muteins of the pyrroline-5-carboxylate reductase 1
  • Muteins of the pyrroline-5-carboxylate reductase 1

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[0064]The following non limiting examples are also illustrative of the process described above and are not to be construed as limiting the scope of the present invention.

[0065]Genotyping and linkage analysis. DNA samples were obtained from 22 families after participants gave their informed consent and after approval by the local ethic commission (Ethikkommission der Charité). We performed genome-wide linkage analysis in eight families using the Affymetrix GeneChip® Human Mapping 250K Arrays (Affymetrix, Santa Clara, Calif.). Genotypes were called by the GeneChip® DNA Analysis Software (GDAS v2.0, Affymetrix). We verified sample genders by counting heterozygous SNPs on the X chromosome. Relationship errors were evaluated with the help of the program Graphical Relationship Representation. The program PedCheck was applied to detect Mendelian errors and data for SNPs with such errors were removed from the data set. Non-Mendelian errors were identified by using the program MERLIN and unl...

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Abstract

The invention relates to muteins of the pyrroline-5-carboxylate reductase 1 (PYCR1), to nucleic acid molecules comprising a nucleotide sequence encoding such muteins, to methods of determining in a subject a predisposition of having an age related disorder associated with PYCR1, to methods of identifying a compound capable of modifying the expression of PYCR1 and methods of treating a subject having an age-related disorder associated with PYCR1. The invention further relates to a genetically modified animal and a method of modifying the expression of the PYCR1 gene in an animal.

Description

[0001]This application claims the benefit of priority of U.S. provisional application No. 61 / 180,937, filed May 26, 2009, the content of which being hereby incorporated by reference in its entirety for all purposes.FIELD OF THE INVENTION[0002]The present invention relates to muteins of the pyrroline-5-carboxylate reductase 1 (PYCR1). The present invention also relates to a method of determining in a subject a predisposition of having an age related disorder associated with PYCR1, methods of identifying a compound capable of modifying the expression of PYCR1, and methods of treating a subject having an age-related disorder associated with PYCR1. The present invention further relates to a genetically modified animal and a method of modifying the expression of the PYCR1 gene in an animal.BACKGROUND OF THE INVENTION[0003]Wrinldy skin and bone loss are typical features associated with ageing. In some monogenetic diseases, these changes occur prematurely resulting in a progeroid appearanc...

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Application Information

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IPC IPC(8): A61K31/7088C12N15/53A61K49/00C12N5/071A01K67/00C12N9/06C12Q1/68
CPCA61K38/00G01N2333/90661C12Y105/01002C12N9/0028A61P17/00A61P19/00A61P43/00A61K38/44C07K14/47C12N15/1137C12Q1/26C12Q1/6886G01N33/5088G01N33/573C12N2310/11C12N2310/3233C12Q2600/158G01N2800/20
Inventor REVERSADE, BRUNOMUNDLOS, STEFAN
Owner AGENCY FOR SCI TECH & RES
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