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Diagnosis of hereditary spastic paraplegias (HSP) by identification of a mutation in the zfyve26 gene or protein

a technology of hsp and gene, applied in the field of identification of mutations in the zfyve26 gene or protein, can solve the problems of relatively undocumented physiopathology of this set of diseases, and achieve the effect of improving diagnosis and improving medical care management of patients affected

Inactive Publication Date: 2011-05-19
INST NAT DE LA SANTE & DE LA RECHERCHE MEDICALE (INSERM)
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  • Summary
  • Abstract
  • Description
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  • Application Information

AI Technical Summary

Benefits of technology

The invention is about a new gene called ZFYVE26, which is associated with hereditary spastic paraplegia (HSP). The inventors have identified mutations in this gene in 18 families with HSP, which suggests that this gene is a frequent cause of the disease. The invention provides a method for diagnosing or predicting HSP by detecting mutations in ZFYVE26, and an isolated nucleic acid that can be used as a primer or probe for mutation detection. The invention also includes an isolated polypeptide containing a mutated version of the ZFYVE26 protein. The invention can help improve diagnosis and genetic counseling of HSP patients, and can also provide new opportunities for research and treatment of the disease.

Problems solved by technology

The physiopathology of this set of diseases is, to date, relatively undocumented; however, anatomopathological data make it possible to conclude that the attack in pure forms of the disease is limited to the pyramidal tracts responsible for voluntary motricity in the spinal cord.

Method used

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  • Diagnosis of hereditary spastic paraplegias (HSP) by identification of a mutation in the zfyve26 gene or protein
  • Diagnosis of hereditary spastic paraplegias (HSP) by identification of a mutation in the zfyve26 gene or protein
  • Diagnosis of hereditary spastic paraplegias (HSP) by identification of a mutation in the zfyve26 gene or protein

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Material & Methods

[0151]Patients and controls: We selected 8 previously described SPG15-linked AR-HSP families (Elleuch et al. 2007, Boukhris et al. 2008a and 2008b, Hughes et al. 2000), one large kindred partially reported (Casali et al. 2004) that we found significantly linked to SPG15 with a significant multipoint LOD score of +3.3 (FSP-761, Muglia et al. submitted), 3 families with linkage analysis compatible with segregation of SPG15 in patients and 3 index cases of families with a compatible phenotype. Affected patients and their relatives were recruited with their informed and written consent, as prescribed by the law on bioethics of the European Community and after approval by the local ethics committee (approval No. 03-12-07 granted to Drs. Brice and Durr by the “Comité Consultatif pour la Protection des Personnes et la Recherche Biomédicale”, Paris-Necker). Genomic DNA from 300 unrelated healthy individuals (Caucasians n=200, North Africans n=100) were used as a control pa...

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Abstract

The Invention relates to an ex vivo method of diagnosing or predicting a hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the ZFYVE26 gene or protein (spastizin), wherein said mutation is indicative of a hereditary spastic paraplegias (HSP).

Description

FIELD OF THE INVENTION[0001]The invention relates to the identification of mutations in the ZFYVE26 gene or protein, associated with a hereditary spastic paraplegias (HSP), and to diagnostic applications that benefit from this identification.BACKGROUND OF THE INVENTION[0002]Hereditary spastic paraplegias (HSP) are genetically heterogeneous Mendelian disorders characterized by weakness, spasticity and loss of vibratory sense in the lower limbs (Harding et al. 1983; Tallaksen et al. 2001; Fink et al, 2006; Depienne et al, 2007; Stevanin et al, 2008). They reveal themselves clinically through difficulties in walking possibly evolving into total paralysis of both legs. The physiopathology of this set of diseases is, to date, relatively undocumented; however, anatomopathological data make it possible to conclude that the attack in pure forms of the disease is limited to the pyramidal tracts responsible for voluntary motricity in the spinal cord. The incidence of HSPs, which remains diffi...

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Application Information

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Patent Type & Authority Applications(United States)
IPC IPC(8): C12Q1/68G01N33/53C07H21/00C07K16/18C07K14/47
CPCC07H21/04C07K14/47G01N2800/385C12Q2600/156G01N33/6893C12Q1/6883
Inventor STEVANIN, GIOVANNIHANEIN, SYLVAINBOUKHRIS, AMIRGOIZET, CYRILMARTIN, ELODIEBRICE, ALEXIS
Owner INST NAT DE LA SANTE & DE LA RECHERCHE MEDICALE (INSERM)