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SEQUENCE OF NUCLEOTIDES AND PEPTIDES GSE 24.2 OF DYSKERIN, WHICH CAN INDUCE TELOMERASE ACTIVITY, METHOD FOR OBTAINING SAME, THERAPEUTIC COMPOSITIONS AND APPLICATIONS THEREOFCM Patents

Índice de la ficha

Updated at
24/07/2026
Numero publicacion
EP.1947175.A1
Fecha publicacion
23/07/2008
Numero solicitud
EP20060849419

En detalle

Resumen

[0001] The invention relates to a compound which induces or activates telomerase activity, based on the nucleotide sequence of the GSE 24.2 fragment of dyskerin or the protein or peptide sequence encoded by said nucleotide sequence. The invention also relates to vectors containing said sequence and cells transformed with same and pharmaceutical compositions containing all of the aforementioned elements. Said compositions can be used in the treatment of diseases from the following group: ageing or acceleration of ageing, neurodegenerative diseases and congenital dyskeratosis.

Reivindicaciones

1. Compound that induces or activates telomerase activity, characterised in that it is a GSE 24.2 nucleotide sequence of dyskerin or that it is the protein or peptide sequence encoded by said nucleotide sequence. 2. Nucleotide sequence, according to claim 1, characterised in that it allows for the expression of a protein or peptide that induces the recovery of telomerase activity in the interior of the cells of a mammal, preferably human, and that it is composed of one or several nucleotide sequences belonging to the following group: a) a nucleotide sequence composed of a human GSE 24.2 nucleotide sequence (SEQ ID NO1), b) a nucleotide sequence analogous to the sequence of a), c) a fragment of any of the sequences of a) and b), and d) a nucleotide sequence, genetic construction, that comprises any sequence belonging to a), b) and c). 3. Nucleotide sequence, according to claim 2, characterised in that it is a DNA, cDNA or mRNA sequence. 4. Nucleotide sequence, according to claim 2, characterised in that the GSE 24.2 sequence of a) is composed of SEQ ID NO1. 5. Nucleotide sequence, according to claim 2, characterised in that the GSE 24.2 sequence of b) is composed of SEQ ID NO11 or SEQ ID NO13. 6. Genetic construction, characterised in that it comprises one or several nucleotide sequences, according to claims 3 to 5. 7. Expression vector, characterised in that it comprises a nucleotide sequence, according to claims 3 to 5, or a genetic construction, according to claim 6. 8. Expression vector, according to claim 7, characterised in that the expression vector is the pLNCX 24.2 plasmid. 9. Protein or peptide, characterised in that it induces telomerase activity in the interior of the cells of a mammal, preferably human, and that it comprises one or several amino acid sequences belonging to the following group: a) an amino acid sequence composed of a human GSE 24.2 amino acid sequence (SEQ ID NO2), b) an amino acid sequence analogous to the sequence of a), c) a fragment of any of the sequences of a) and b), and d) an amino acid sequence that comprises any sequence belonging to a), b) and c). 10. Protein, according to claim 9, characterised in that the amino acid sequence of a) is composed of SEQ ID NO2. 11. Protein, according to claim 9, characterised in that the amino acid sequence of c) is SEQ ID NO12 or SEQ ID NO14. 12. Genetically modified eukaryotic - preferably human - or prokaryotic cells, characterised in that they comprise the nucleotide sequence, according to claims 2 to 5, the construction, according to claim 6, or the expression vector, according to claims 7 and 8, wherein the peptide or protein, according to claims 9 to 11, may be adequately expressed. 13. Cell, according to claim 12, characterised in that it is a human cell. 14. Use of the inducer compound, the nucleotide sequence, the construction, the vector, the protein or the cell, according to claims 1 to 13, in the preparation of a drug or pharmaceutical composition for the treatment of a disease caused by an alteration of, preferably a reduction in, telomerase activity. 15. Use, according to claim 14, characterised in that the disease belongs to the following group: ageing or acceleration of ageing, neurodegenerative diseases and dyskeratosis congenita. 16. Pharmaceutical composition or drug for the treatment of diseases, disorders or pathologies that develop with alterations of telomerase activity, preferably a reduction in activity, characterised in that it comprises a compound or agent capable of recovering telomerase activity, according to claim 1. 17. Pharmaceutical composition, according to claim 16, characterised in that the compound or agent that induces telomerase activity belongs to the following group: nucleotide sequence, genetic construction, expression vector, protein or cell, according to claims 2 to 13. 18. Pharmaceutical composition, according to claim 17, characterised in that the compound is one or several sequences belonging to the following group: a) a nucleotide sequence composed of a human GSE 24.2 nucleotide sequence (SEQ ID NO1), b) a nucleotide sequence analogous to the sequence of a), c) a fragment of any of the sequences of a) and b), and d) a nucleotide sequence that comprises any sequence belonging to a), b) and c). 19. Pharmaceutical composition, according to claim 18, characterised in that the nucleotide sequence of a) is the SEQ ID NO1 nucleotide sequence. 20. Pharmaceutical composition, according to claim 18, characterised in that the nucleotide sequence of c) is the SEQ ID NO11 or SEQ ID NO 13 nucleotide sequence. 21. Pharmaceutical composition, according to claim 17, characterised in that the compound is a genetic construction, according to claim 6. 22. Pharmaceutical composition, according to claim 17, characterised in that the compound is an expression vector, according to claims 7 and 8. 23. Pharmaceutical composition, according to claim 22, characterised in that the vector is the pLNCX 24.2 plasmid. 24. Pharmaceutical composition, according to claim 17, characterised in that the compound is a protein, according to claims 9 to 11. 25. Pharmaceutical composition, according to claim 24, characterised in that the protein belongs to the following group: a) an amino acid sequence composed of a human GSE 24.2 amino acid sequence (SEQ ID NO2), b) an amino acid sequence analogous to the sequence of a), c) a fragment of any of the sequences of a) and b), and d) an amino acid sequence that comprises any sequence belonging to a), b) and c). 26. Another particular embodiment of this invention is the pharmaceutical composition of the invention wherein the amino acid sequence of a) is the SEQ ID NO2 sequence. 27. Another particular embodiment of this invention is the pharmaceutical composition of the invention wherein the amino acid sequence of c) is the SEQ ID NO12 and SEQ ID NO14 sequence. 28. Pharmaceutical composition, according to claim 17, characterised in that the compound is a cell, preferably human, transformed by the sequence, construction or vector, according to claims 2 to 8. 29. Use of the pharmaceutical composition, according to claims 16 to 25, in a method of treatment or prophylaxis for a mammal, preferably a human being, affected by a disease, disorder or pathology that develops with alterations of, preferably a reduction in, telomerase activity, consisting of the administration of said therapeutic composition in a suitable dose that makes it possible to recover telomerase activity in the interior of its cells. 30. Use of the pharmaceutical composition, according to claim 29, characterised in that the disease that develops with alterations of telomerase activity and which affects human beings belongs to the following group: ageing or acceleration of ageing, neurodegenerative diseases, dyskeratosis congenita, Cri du chat, ataxia telangiectasia, Nijmegen Breakage Syndrome, Bloom Syndrome, Werner Syndrome, Fanconi's anaemia, ulcerous colitis, vascular ageing, atherosclerosis and cancer. 31. Use of the pharmaceutical composition, according to claim 30, characterised in that the neurodegenerative disease belongs to the following group: Alzheimer's disease, Parkinson's disease, cerebellar ataxia and spinal cord degeneration. 32. Use of the pharmaceutical composition, according to claim 30, characterised in that the disease is cancer. 33. Use of the pharmaceutical composition, according to claim 30, characterised in that the dyskeratosis congenita is the X-chromosome-linked form of dyskeratosis congenita or autosomal dominant dyskeratosis congenita.

Etiquetas

Inventores
Perona Abellan RosarioMachado Pinilla RosarioSastre Garzan LeandroSanchez Perez IsabelMurguia Ibanez Jose RamonSastre Garzon LeandroPerona Abellon RosarioMurguia Ibauez Jose RamonAbellon Rosario PeronaPinilla Rosario MachadoGarzon Leandro SastrePerez Isabel SanchezIbanez Jose Ramon MurguiaRosario Perona AbellonRosario Machado PinillaLeandro Sastre GarzonIsabel Sanchez PerezJose Ramon Murguia Ibanez
Solicitantes
Consejo Superior de Investigaciones CientíficasUniversidad Autónoma de MadridUniv Valencia PolitecnicaUniversitat Politècnica de ValènciaUniv Autonoma de Madrid FundacUniversidad Autonoma de Madrid - Fundacion GeneralConsejo Superior Investig. CientificasAbellon Rosario PeronaPinilla Rosario MachadoGarzon Leandro SastrePerez Isabel SanchezIbanez Jose Ramon MurguiaPerona Abellon RosarioMachado Pinilla RosarioSastre Garzon LeandroSanchez Perez IsabelMurguia Ibanez Jose Ramon
Clasificacion ipc
A61K 38/ 17 A IA61P 43/ 00 A IC12N 9/ 12 A IC12N 9/ 88 A IA61K 35/ 12 A IA61K 38/ 00 A IA61K 48/ 00 A IA61P 1/ 04 A IA61P 17/ 00 A IA61P 25/ 00 A IA61P 25/ 16 A IA61P 25/ 28 A IA61P 35/ 00 A IA61P 7/ 06 A IA61P 9/ 00 A IA61P 9/ 10 A IA61P 9/ 14 A IC07K 14/ 47 A IC12N 1/ 15 A IC12N 1/ 19 A IC12N 1/ 21 A IC12N 15/ 09 A IC12N 5/ 10 A IC12N 9/ 96 A IA61K 31/ 711 A IA61K 31/ 713 A IA61K 38/ 04 A IA61K 38/ 10 A IA61K 38/ 16 A IC12N 15/ 12 A IC12N 15/ 85 A I
Clasificacion cpc
4B024/AA014B024/BA804B024/CA044B024/CA204B024/DA034B024/EA044B024/GA114B050/HH014B050/LL014B065/AA93X4B065/AA93Y4B065/AB014B065/AC144B065/BA024B065/CA244B065/CA444C084/AA024C084/AA074C084/AA134C084/BA014C084/BA444C084/CA184C084/CA534C084/DC504C084/NA144C084/ZA0124C084/ZA0224C084/ZA1624C084/ZA3624C084/ZA4524C084/ZA5524C084/ZA6824C084/ZA8924C084/ZB2624C084/ZC4124C084/ZC5224C087/AA014C087/BB334C087/BB654C087/NA144C087/ZA014C087/ZA024C087/ZA164C087/ZA364C087/ZA454C087/ZA554C087/ZA684C087/ZA894C087/ZB264C087/ZC414C087/ZC524H045/AA104H045/AA204H045/AA304H045/BA104H045/CA404H045/EA204H045/FA74A61K35/12A61K37/02A61K48/00A61P1/04A61P17/00A61P25/00A61P25/16A61P25/28A61P35/00A61P43/00A61P43/00&111A61P7/06A61P9/00A61P9/10&101A61P9/14C07K14/47C12N1/15C12N1/19C12N1/21C12N15/00&AC12N5/00&AC12N9/96424/93.2424/93.21435/320.1435/325514/1.1530/350536/23.5
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