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ES2432653R1 - A PROCEDURE AND KIT FOR THE DIFFERENTIAL DIAGNOSIS OF A DISEASE THAT COURSES WITH MUSCLE AFFECTION. - Google Patents

A PROCEDURE AND KIT FOR THE DIFFERENTIAL DIAGNOSIS OF A DISEASE THAT COURSES WITH MUSCLE AFFECTION. Download PDF

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Publication number
ES2432653R1
ES2432653R1 ES201230771A ES201230771A ES2432653R1 ES 2432653 R1 ES2432653 R1 ES 2432653R1 ES 201230771 A ES201230771 A ES 201230771A ES 201230771 A ES201230771 A ES 201230771A ES 2432653 R1 ES2432653 R1 ES 2432653R1
Authority
ES
Spain
Prior art keywords
disease
kit
procedure
proteins
human subject
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Granted
Application number
ES201230771A
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Spanish (es)
Other versions
ES2432653A2 (en
ES2432653B1 (en
Inventor
Fulvio SANTACATTERINA
María SÁNCHEZ ARAGO
José Manuel CUEZVA MARCOS
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
CT DE INVESTIGACION BIOMEDICA EN RED DE ENFERMEDADES RARAS
Universidad Autonoma de Madrid
Centro de Investigacion Biomedica en Red de Enfermedades Raras CIBERER
Original Assignee
CT DE INVESTIGACION BIOMEDICA EN RED DE ENFERMEDADES RARAS
Universidad Autonoma de Madrid
Centro de Investigacion Biomedica en Red de Enfermedades Raras CIBERER
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
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Application filed by CT DE INVESTIGACION BIOMEDICA EN RED DE ENFERMEDADES RARAS, Universidad Autonoma de Madrid, Centro de Investigacion Biomedica en Red de Enfermedades Raras CIBERER filed Critical CT DE INVESTIGACION BIOMEDICA EN RED DE ENFERMEDADES RARAS
Priority to ES201230771A priority Critical patent/ES2432653B1/en
Publication of ES2432653A2 publication Critical patent/ES2432653A2/en
Publication of ES2432653R1 publication Critical patent/ES2432653R1/en
Application granted granted Critical
Publication of ES2432653B1 publication Critical patent/ES2432653B1/en
Expired - Fee Related legal-status Critical Current
Anticipated expiration legal-status Critical

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Classifications

    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6887Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids from muscle, cartilage or connective tissue

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Immunology (AREA)
  • Cell Biology (AREA)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Food Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • General Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Other Investigation Or Analysis Of Materials By Electrical Means (AREA)

Abstract

Un procedimiento y kit para el diagnóstico diferencial de una enfermedad que cursa con afectación muscular en un sujeto humano, que comprende determinar en una biopsia muscular obtenida de dicho sujeto humano las concentraciones de las proteínas {be}-F1-ATPasa, LDH-A y al menos una de las proteínas seleccionadas del grupo compuesto por PYGM, GAPDH, SDH y GPD1, determinar el índice {be}-F1-ATPasa/LDH-A entre las concentraciones de dichas proteínas, determinar si el valor obtenido de dicho índice y el valor de la concentración de una de las proteínas seleccionadas del grupo compuesto por PYGM, GAPDH, SDH y GPD1 están comprendidos entre unos determinados valores de referencia y realizar el diagnóstico de la enfermedad que cursa con afectación muscular en dicho sujeto humano evaluando el resultado del paso anterior. La enfermedad que cursa con afectación muscular es preferiblemente distrofia muscular de Duchenne, distrofia muscular de Becker, {ga}-sarcoglicanopatía o lipofuccinosis ceroide neuronal.A procedure and kit for the differential diagnosis of a disease that involves muscular involvement in a human subject, which comprises determining in a muscle biopsy obtained from said human subject the concentrations of the proteins {be} -F1-ATPase, LDH-A and at least one of the proteins selected from the group consisting of PYGM, GAPDH, SDH and GPD1, determine the index {be} -F1-ATPase / LDH-A between the concentrations of said proteins, determine whether the value obtained from said index and the The concentration value of one of the proteins selected from the group consisting of PYGM, GAPDH, SDH and GPD1 are included between certain reference values and make the diagnosis of the disease that occurs with muscular involvement in said human subject evaluating the result of the step previous. The disease that occurs with muscular involvement is preferably Duchenne muscular dystrophy, Becker muscular dystrophy, {ga} -sarcoglycan disease or neuronal zeroide lipofuccinosis.

ES201230771A 2012-05-23 2012-05-23 A PROCEDURE AND KIT FOR THE DIFFERENTIAL DIAGNOSIS OF A DISEASE THAT COURSES WITH MUSCLE AFFECTION. Expired - Fee Related ES2432653B1 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
ES201230771A ES2432653B1 (en) 2012-05-23 2012-05-23 A PROCEDURE AND KIT FOR THE DIFFERENTIAL DIAGNOSIS OF A DISEASE THAT COURSES WITH MUSCLE AFFECTION.

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
ES201230771A ES2432653B1 (en) 2012-05-23 2012-05-23 A PROCEDURE AND KIT FOR THE DIFFERENTIAL DIAGNOSIS OF A DISEASE THAT COURSES WITH MUSCLE AFFECTION.

Publications (3)

Publication Number Publication Date
ES2432653A2 ES2432653A2 (en) 2013-12-04
ES2432653R1 true ES2432653R1 (en) 2014-09-29
ES2432653B1 ES2432653B1 (en) 2015-09-17

Family

ID=49584926

Family Applications (1)

Application Number Title Priority Date Filing Date
ES201230771A Expired - Fee Related ES2432653B1 (en) 2012-05-23 2012-05-23 A PROCEDURE AND KIT FOR THE DIFFERENTIAL DIAGNOSIS OF A DISEASE THAT COURSES WITH MUSCLE AFFECTION.

Country Status (1)

Country Link
ES (1) ES2432653B1 (en)

Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5989822A (en) * 1998-09-17 1999-11-23 Incyte Pharmaceuticals, Inc. ATP synthase subunit homolog
WO2001030836A1 (en) * 1999-10-28 2001-05-03 Shanghai Biorigin Gene Development Co., Ltd. Novel human atpases and encoding sequences thereof
WO2001085200A2 (en) * 2000-05-11 2001-11-15 University Of Medicine And Dentistry Of New Jersey Recombinant human cln2 protein and methods of its production and use
US20090311704A1 (en) * 2008-06-06 2009-12-17 The Hospital For Sick Children Compositions and methods for diagnosis of autophagic vacuolar myopathy

Patent Citations (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5989822A (en) * 1998-09-17 1999-11-23 Incyte Pharmaceuticals, Inc. ATP synthase subunit homolog
WO2001030836A1 (en) * 1999-10-28 2001-05-03 Shanghai Biorigin Gene Development Co., Ltd. Novel human atpases and encoding sequences thereof
WO2001085200A2 (en) * 2000-05-11 2001-11-15 University Of Medicine And Dentistry Of New Jersey Recombinant human cln2 protein and methods of its production and use
US20090311704A1 (en) * 2008-06-06 2009-12-17 The Hospital For Sick Children Compositions and methods for diagnosis of autophagic vacuolar myopathy

Also Published As

Publication number Publication date
ES2432653A2 (en) 2013-12-04
ES2432653B1 (en) 2015-09-17

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