Slide RARE NEURODEGENERATIVE DISEASES Carmen Espinós






Characterization of the molecular basis of neurodegeneration in brain iron-accumulation disorders.

A disease is defined as rare when it affects fewer than 1/2,000 people; most rare diseases are hereditary, pediatric, and debilitating. Our laboratory is interested in studying Charcot-Marie-Tooth (CMT) disease and related neuropathies (e.g., distal spinal atrophy and hereditary motor neuropathy), neurodegenerative diseases involving iron accumulation in the brain or other movement disorders (e.g., ataxias, spastic paraplegias, and dystonia), and Wilson’s disease. Our specific lines of research focus on:

  • The genetic bases of these diseases, which are characterized by a wide genetic heterogeneity. Indeed, many of the genes implicated in rare diseases still remain unknown. Our work aims to discover new genes and mutations, thereby improving the clinical and genetic diagnosis of rare diseases.
  • Gene modifiers implicated in rare diseases. These diseases tend to present with a broad range of clinical variability. Thus, we try to identify nucleotide variants that, in addition to being potentially disease-causative, might also contribute to the clinical outcomes of these illnesses.
  • Prognosis biomarkers: we characterize the microRNA profiles associated with certain clinical signs to test whether they can be used as biomarkers to predict disease prognosis and evolution, or in the assessment of potential new drugs.
  • Therapeutic targets for novel treatments. The mechanisms of these diseases must be established so that potential targets can be identified and targeted. For example, we are currently focused on the pathophysiology underlying the 2Z CMT disease variant caused by MORC2 gene mutations.

Presentation

Get to know us better

Research Staff

The people who make it all possible

Carmen Espinós Armero
cespinos@cipf.es

Desamparados Andrés Bordería

Dolores Martínez Rubio
mdmartinez@cipf.es

Ana Sánchez Monteagudo
asanchez@cipf.es

Mª Isabel Hinarejos Martinez
mihinarejos@cipf.es

Publications

Our scientific contributions

Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain
A. SANCHEZ-MONTEAGUDO, M. ALVAREZ-SAUCO, I. SASTRE, I. MARTINEZ-TORRES, V. LUPO, M. BERENGUER and C. ESPINOS
CLINICAL GENETICS, 2020 May,  Vol. 97,  pag. 758-763

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations
Sancho P, Bartesaghi L, Miossec O, García-García F, Ramírez-Jiménez L, Siddell A, Åkesson E, Hedlund E, Laššuthová P, Pascual-Pascual SI, Sevilla T, Kennerson M, Lupo V, Chrast R and Espinós C
HUMAN MOLECULAR GENETICS, 2019 May,  Vol. 28,  pag. 1629-1644

Assessment of Targeted Next-Generation Sequencing as a Tool for the Diagnosis of Charcot-Marie-Tooth Disease and Hereditary Motor Neuropathy
V. LUPO, F. GARCIA-GARCIA, P. SANCHO, C. TELLO, M. GARCIA-ROMERO, L. VILLARREAL, A. ALBERTI, R. SIVERA, J. DOPAZO, S. PASCUAL-PASCUAL, C. MARQUEZ-INFANTE, C. CASASNOVAS, T. SEVILLA and Carmen Espinós
JOURNAL OF MOLECULAR DIAGNOSTICS, 2016 Mar,  Vol. 18,  pag. 225-234

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease
T. SEVILLA, V. LUPO, D. MARTINEZ-RUBIO, P. SANCHO, R. SIVERA, M. CHUMILLAS, M. GARCIA-ROMERO, S. PASCUAL-PASCUAL, N. MUELAS, J. DOPAZO, J. VILCHEZ, F. PALAU and Carmen Espinós
BRAIN, 2016 Jan,  Vol. 139,  pag. 62-72

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease
D. PLA-MARTIN, E. CALPENA, V. LUPO, C. MARQUEZ, E. RIVAS, R. SIVERA, T. SEVILLA, F. PALAU and Carmen Espinós
HUMAN MOLECULAR GENETICS, 2015 Jan,  Vol. 24,  pag. 213-229

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