Neurometabolic Diseases Lab

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Neurometabolic Diseases Lab

Our Lab

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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

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

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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

Diario ABC Catalunya- Científicos españoles descubren un nuevo tipo de leucodistrofia infantil y su potencial cura

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Científicos españoles descubren un nuevo tipo de leucodistrofia infantil y su potencial cura

Link a la publicación científica y video en:

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10 enero 2019

Dim lights

Equipo de investigadores del Idibell que han descubierto el gen causante de la enfermedad - idibell


Identifican el gen causante de la enfermedad y constatan que los efectos que provoca pueden «ser contrarestados» por un fármaco que se usa contra la esclerosis múltiple

El grupo de Enfermedades Neurometabólicas del Institut de Recerca Biomèdica de Bellvitge de Barcelona (Idibell) y del Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), liderado por la doctora y profesora ICREA Aurora Pujol, ha descubierto una nueva leucodistrofia infantil, una enfermedad que afecta a la sustancia blanca del cerebro (mielina), y que lleva a una discapacidad grave y la muerte en algunos casos.

Mediante la secuenciación del exoma completo de 19 pacientes a nivel mundial, los científicos han descubierto que el gen que causa la enfermedad se llama DEGS1, una enzima del metabolismo de lípidos cuya función es transformar las dihidroceramidas en ceramidas, centro neurálgico para el funcionamiento cerebral, tal y como han publicado en la revista «Journal of Clinical Investigation».

Last Updated on Monday, 01 July 2019 11:02


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Important and exciting update for patients with AMN:

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

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Last Updated on Monday, 01 July 2019 11:11

High-dose Biotin Capsule Shows Promise in X-ALD

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Link a la noticia original:

14 mayo 2019

#AANAM – High-dose Biotin Capsule Shows Promise in X-ALD

by Patricia Inacio, PhD

MD1003, a high-dose biotin, rescued locomotor (movement) activity and halted axon (nerve fiber) degeneration in two mouse models of X-linked adrenoleukodystrophy (ALD), including one with more severe and early disease onset, a study shows.

The results were presented at the 2019 American Academy of Neurology (AAN) Annual Meeting (May 4-10), by Stéphane Fourcade, researcher at IDIBELL, Barcelona, Spain, in a poster titled “Beneficial Effects of High-dose Biotin (MD1003) in Models of X-linked adrenoleukodystrophy.”

Biotin is a form of vitamin B, and it plays an important role in energy production within cells. MD1003 is a highly concentrated oral formulation of biotin that acts on neurons’ metabolism to minimize the loss and promote the repair of myelin — the protective, fat-rich substance that wraps around axons. Myelin is progressively destroyed in diseases such as multiple sclerosis and ALD, causing disability.

In the study, researchers at IDIBELL and Medday Pharmaceuticals used two mouse models of X-ALD to investigate whether MD1003 can halt axon degeneration and locomotor deficits. The team also investigated the molecular mechanisms by which MD1003 may exert its effects.

Researchers used a mouse model generated by deleting the ABCD1 gene, which is the cause of X-ALD when mutated. ABCD2 is another gene with a very similar function to ABCD1 that, upon absence of ABCD1, may try to compensate for its effects.


As a result, to analyze the effects of MD1003 on locomotor behavior and axonal degeneration, researchers used another mouse model that was genetically modified to lack both ABCD1 and ABCD2 genes, called a double knockout (KO) mouse, known to have a more severe disease and earlier onset than the single ABCD1 KO mice.

Last Updated on Wednesday, 22 May 2019 09:08
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