Neurometabolic Diseases Lab

  • Increase font size
  • Default font size
  • Decrease font size
Neurometabolic Diseases Lab

Our Lab

E-mail Print PDF

The Neurometabolic Diseases Lab, led by ICREA Research Professor Aurora Pujol, is integrated in the Neurosciences Area of IDIBELL. The lab was created in January 2005 thanks to the support of the Catalan Institution for Research and Advanced Studies (ICREA), the European Commission (FP6 program) and the European Leukodystrophy Association.

Our main interest lies on deciphering the pathophysiology of neurometabolic diseases for developing rational therapeutic strategies. For this aim, we are using state-of-the-art-technology, including transcriptomics, proteomics, metabolomics and lipidomics following an integrative, systems biology approach. We have mostly focused our work on elucidating the molecular basis of X-adrenoleukodystrophy, in particular towards oxidative stress and mitochondrial dysfunction pathways. Further, we are using a comparative genomics approach to studying the evolutionary origin of peroxisomes and their related metabolic routes, with focus in lipid metabolism. The derived knowledge might contribute to unravelling the role of this poorly studied organelle in ageing and neurodegenerative diseases.

The Neurometabolic Diseases Lab is as today a consolidated research group recognised by the Catalan Government (GRC 85). The group is integrated in the CIBERER (the Spanish Network of Research in Rare Diseases), the COST Myelinet action and the FP7 Leukotreat Project.

Last Updated on Wednesday, 02 May 2018 16:00
 

Dimetilfumarato, designado medicamento huérfano para el tratamiento de la adrenoleucodistrofia

E-mail Print PDF

Dimetilfumarato, designado medicamento huérfano para el tratamiento de la adrenoleucodistrofia

Link a la noticia original:

 

CIBERER | martes, 21 de enero de 2020

Los estudios han sido desarrollados por la U759 CIBERER que lidera Aurora Pujol.

 

La Agencia Europea del Medicamento (EMA) ha designado el dimetilfumarato como medicamento huérfano para el tratamiento de la adrenoleucodistrofia, una enfermedad rara de origen neurometabólico que afecta al sistema nervioso y es frecuentemente fatal.

El dimetilfumarato es un activador de molécula de la vía NFR2, que utilizan las células para defenderse de diferentes estímulos tóxicos, principalmente el estrés oxidativo. A través de la activación del NRF2, el dimetilfumarato es capaz de reducir la respuesta inflamatoria y favorecer la citoprotección de las células del sistema nervioso central, demostrando efectos neuroprotectores en pacientes con esclerosis múltiple. Está comercializado con este fin con el nombre de Tecfidera por Biogen.

Last Updated on Monday, 27 January 2020 17:35 Read more...
 

Bad fats in the brain: Loss of fat-modifying enzyme is the cause of a childhood brain disease

E-mail Print PDF

Bad fats in the brain: Loss of fat-modifying enzyme is the cause of a childhood brain disease

Link to the Original New:

Original Scientific Article, D.Pant et al: pdf button

Written By: Kathleen Cunningham

The Gist of It:

In your brain and spinal cord, neurons have a fatty covering that protects them, similar to the plastic coating around your cell phone charge cord. This covering is made of myelin. Myelin is made by cells in your brain called oligodendrocytes and it has many roles, including helping to maintain the proper electrical signals in the neurons in your brain. However, in patients with leukodystrophies (LD), a group of rare disorders that affect the nervous system, myelin is not made or broken down abnormally Patients with LD develop the disorder in infancy and can have severe symptoms, such as poor motor function, involuntary muscle contractions, seizures, and death.

Using genetic sequencing, Pant and colleagues found a change in the gene DEGS1 that caused LD in 19 patients from 13 different families.

 

 

 

Zebrafish were used to test whether DEGS1 mutations identified in leukodystrophy patients can cause features similar to disease in humans and to test possible treatments.

 

Last Updated on Thursday, 05 March 2020 10:13 Read more...
 

Top Downloaded Article 2017-2018

E-mail Print PDF

 

Schlüter A, Sandoval J, Fourcade S, Díaz-Lagares A, Ruiz M, Casaccia P, Esteller M, Pujol A . Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation. Brain Pathol. 2018 Feb 24. PMID: 29476661. doi: 10.1111/bpa.12595. [Epub ahead of print]

Epigenomic changes may either cause disease or modulate its expressivity, adding a layer of complexity to mendelian diseases. X-linked adrenoleukodystrophy (X-ALD) is a rare neurometabolic condition exhibiting discordant phenotypes, ranging from a childhood cerebral inflammatory demyelination (cALD) to an adult-onset mild axonopathy in spinal cords (AMN). The AMN form may occur with superimposed inflammatory brain demyelination (cAMN). All patients harbor loss of function mutations in the ABCD1 peroxisomal transporter of very-long chain fatty acids. The factors that account for the lack of genotype-phenotype correlation, even within the same family, remain largely unknown. To gain insight into this matter, here we compared the genome-wide DNA methylation profiles of morphologically intact frontal white matter areas of children affected by cALD with adult cAMN patients, including male controls in the same age group. We identified a common methylomic signature between the two phenotypes, comprising (i) hypermethylation of genes harboring the H3K27me3 mark at promoter regions, (ii) hypermethylation of genes with major roles in oligodendrocyte differentiation such as MBP, CNP, MOG and PLP1 and (iii) hypomethylation of immune-associated genes such as IFITM1 and CD59.

Last Updated on Thursday, 05 March 2020 10:09 Read more...
 

Un estudio sobre una nueva leucodistrofia de investigadores del CIBERER, premiado en el Simposio Anual de SSIEM

E-mail Print PDF

Un estudio sobre una nueva leucodistrofia de investigadores del CIBERER, premiado en el Simposio Anual de SSIEM

 

Link a la noticia original:

18 septiembre 2019

Àngels Garcia-Cazorla (derecha) en el momento de recoger el reconocimiento.

Un estudio sobre una nueva leucodistrofia de investigadores del CIBERER, premiado en el Simposio Anual de SSIEM

El trabajo se centra en el descubrimiento de una nueva leucodistrofia causada por la pérdida de función del gen DEGS1, involucrado en la síntesis de ceramidas y otros lípidos complejos con roles clave en la señalización metabólica y la formación de mielina. Esta nueva enfermedad infantil lleva a una discapacidad grave y la muerte en algunos casos.

El diagnóstico se ha conseguido mediante secuenciación masiva del exoma en la U759, gracias a la financiación del CIBERER, el programa URDCat (Enfermedades Raras no Diagnosticadas de Cataluña) y La Marató de TV3.

Last Updated on Wednesday, 18 September 2019 14:07 Read more...
 
  • «
  •  Start 
  •  Prev 
  •  1 
  •  2 
  •  3 
  •  4 
  •  5 
  •  6 
  •  Next 
  •  End 
  • »


Page 1 of 6

Funding

Instituto de Salud Carlos III
CIBERER

ICREA
Myelinet
COST
Leukotreat
Olivers Army
The Myelin Project
Walk On Project

Login Form

View My Stats


PeroxisomeDB 2.0

Visit the Peroxisome web site. Now includes 37 organisms!