Neurometabolic Diseases Lab

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Neurometabolic Diseases Lab

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

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

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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 Monday, 27 April 2020 23:28 Read more...
 

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 Read more...
 

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

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10 enero 2019


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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 Read more...
 

Facebook/ STOP ALD FOUNDATION

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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, 27 January 2020 17:25
 

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 Read more...
 


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Funding

Instituto de Salud Carlos III
CIBERER

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

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