New discovery offers fresh hope for children suffering from leukodystrophy, a novel disease that affects the brain white matter.
The Neurometabolic Diseases research team at IDIBELL and CIBER of Rare Diseases (CIBERER), led by ICREA Professor Aurora Pujol, has uncovered a novel disease of children affecting the brain white matter -the myelin sheath-, leading to severe incapacity and death in some cases.
Gene Responsible for Childhood Neurodegenerative Disorders Identified
Mutated gene responsible for three forms of leukodystrophies has been identified by scientists.
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‘New study offers hope in curing leukodystrophy, a novel disease that affects the brain white matter in children. The gene that causes the disease is called DEGS1, and its defect may be counteracted with fingolimod, a drug currently used to treat multiple sclerosis.’
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The gene causing the disorder is called DEGS1 and was identified using whole exome sequencing (WES) of 19 patients from around the globe (China, Iran, Morocco, USA, and France). "Sample collection for such a rare disease was extremely fast thanks to our collaboration with reference centers for leukodystrophies in France (Dr. Odile Boespflug-Tanguy) and in Baltimore (Dr. Ali Fatemi), and to the freely accessible genomic information exchange platform GeneMatcher," Dr. Pujol explains.
DEGS1 is an enzyme of lipid metabolism that converts dihydroceramides to ceramides, at a hub essential for brain function. Indeed, defects in other enzymes along this pathway cause similar rare diseases like Krabbe disease or Metachromatic Leukodystrophy, also affecting the myelin.
![Gene Therapy Can Increase Life Span of Genetic Disorders]( "Gene Therapy Can Increase Life Span of Genetic Disorders")
Adrenoleukodystrophy, an X-linked genetic disease that usually affects boys can be treated with stem cells after chemotherapy.
A zebrafish model with deficient DEGS1 function was generated in the laboratory of Dr. Cristina Pujades, UPF Barcelona, and exhibited swimming difficulties, loss of myelin forming cells (oligodendrocytes) and ceramide imbalances. These defects were corrected by a treatment with fingolimod, a drug in use for multiple sclerosis which interferes with this pathway.
"These results pave the way to clinical trials, illustrating the transformative impact of clinical and functional genomics in the continuum from diagnostics to treatment," adds Dr. Pujol.
Source: Eurekalert
Gene Therapy Can Increase Life Span of Genetic Disorders
Adrenoleukodystrophy, an X-linked genetic disease that usually affects boys can be treated with stem cells after chemotherapy.
Advertisement
A zebrafish model with deficient DEGS1 function was generated in the laboratory of Dr. Cristina Pujades, UPF Barcelona, and exhibited swimming difficulties, loss of myelin forming cells (oligodendrocytes) and ceramide imbalances. These defects were corrected by a treatment with fingolimod, a drug in use for multiple sclerosis which interferes with this pathway.
"These results pave the way to clinical trials, illustrating the transformative impact of clinical and functional genomics in the continuum from diagnostics to treatment," adds Dr. Pujol.
Source: Eurekalert
Coconut Oil May Improve Survival in Peroxisomal Disorders
Coconut oil diet rich in medium-chain fatty acids may improve survival in peroxisomal disorders which are a rare hereditary disease.
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 Yeast Research Provides Insights into Rare Central Nervous System DisorderAn important quality control mechanism in baker's yeast is closely linked to hypomyelinating leukodystrophy, a debilitating disease found in children. | Advertisement
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