IDIBELL researchers identify a new leukodystrophy in children and its potential cure

(IDIBELL-Bellvitge Biomedical Research Institute) The Neurometabolic Diseases research team at IDIBELL and CIBERER, led by 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. These defects were corrected by a treatment with fingolimod, a drug in use for multiple sclerosis which interferes with this pathway.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news

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AbstractMyelin pathologies are an important cause of multifactorial, e.g., multiple sclerosis, and Mendelian, e.g., leukodystrophy, neurological disorders.CNP encodes a major component of myelin and its CNS expression is exclusive to myelin-forming oligodendrocytes. Deficiency of CNP in mouse causes a lethal white matter neurodegenerative phenotype. However, a corresponding human phenotype has not been described to date. Here, we describe a multiplex consanguineous family from Oman in which multiple affected members display a remarkably consistent phenotype of neuroregression with profound brain white matter loss. A novel ...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
Authors: Papaneophytou C, Georgiou E, Kleopa KA Abstract Gap junctions (GJs) provide channels for direct cell-to-cell connectivity serving the homeostasis in several organs of vertebrates including the central (CNS) and peripheral (PNS) nervous systems. GJs are composed of connexins (Cx), which show a highly distinct cellular and subcellular expression pattern. Oligodendrocytes, the myelinating cells of the CNS, are characterized by extensive GJ connectivity with each other as well as with astrocytes. The main oligodendrocyte connexins forming these GJ channels are Cx47 and Cx32. The importance of these channels ha...
Source: Channels - Category: Molecular Biology Tags: Channels (Austin) Source Type: research
AbstractMegalencephalic leukoencephalopathy with subcortical cysts protein-1 (MLC1) is a membrane protein expressed by perivascular astrocytes. MLC1 mutations cause MLC, an incurable leukodystrophy characterized by macrocephaly, brain edema, cysts, myelin vacuolation, and astrocytosis, leading to cognitive/motor impairment and epilepsy. Although its function is unknown, MLC1 favors regulatory volume decrease after astrocyte osmotic swelling and down-regulates intracellular signaling pathways controlling astrocyte activation and proliferation. By combining analysis of human brain tissues with in vitro experiments, here we i...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting the myelin sheath. We have used whole-exome sequencing in patients with undetermined leukoencephalopathies to uncover the endoplasmic reticulum lipid desaturase DEGS1 as the causative gene in 19 patients from 13 unrelated families. Shared features among the cases include severe motor arrest, early nystagmus, dystonia, spasticity, and profound failure to thrive. MRI showed hypomyelination, thinning of the corpus callosum, and progressive thalamic and cerebellar atrophy, suggesting a critical role of DEGS1 in myelin development and ma...
Source: Journal of Clinical Investigation - Category: Biomedical Science Authors: Source Type: research
In conclusion, we found a gradient of increasing blood pressure with higher levels of BMI. The fact that this gradient is present even in the fully adjusted analyses suggests that BMI may cause a direct effect on blood pressure, independent of other clinical risk factors. PRRX1 as a Possible Point of Control for Remyelination https://www.fightaging.org/archives/2018/12/prrx1-as-a-possible-point-of-control-for-remyelination/ Researchers here outline what is possibly a new point of intervention in the processes that maintain the myelin sheath that wraps nerves. This sheath is vital to the correct operatio...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Researchers here outline what is possibly a new point of intervention in the processes that maintain the myelin sheath that wraps nerves. This sheath is vital to the correct operation of the nervous system, and as a consequence demyelinating conditions such as multiple sclerosis are unpleasant and fatal. Loss of myelin isn't just restricted to named conditions, however: some degree of degradation occurs over the course of aging, and is thought to contribute to the progression of cognitive decline. Thus therapies that can boost myelin maintenance may be of greater interest than it might at first appear. Myelin is mai...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
Conclusion: A significant number of MS patients can have a striking atypical presentation and may be misdiagnosed. This preliminary analysis helps to refine the spectrum of atypical MS patients.
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
Publication date: Available online 3 December 2018Source: Multiple Sclerosis and Related DisordersAuthor(s): Ji Zhou, Xiaopeng Lu, Yao Zhang, Taoyun Ji, Yiwen Jin, Min Xu, Xinhua Bao, Yuehua Zhang, Hui Xiong, Xingzhi Chang, Yuwu Jiang, Ye WuABSTRACTBackgroundSome studies have reported clinical features of relapsing MOG-IgG-associated CNS demyelination principally in Caucasians children. It is not clear whether Chinese children share the same phenotype.ObjectiveTo delineate the clinical characteristics in Chinese children with relapsing MOG-IgG-associated demyelination.MethodsA follow-up study on 23 Children with relapsing ...
Source: Multiple Sclerosis and Related Disorders - Category: Neurology Source Type: research
(Salk Institute) Researchers from the Salk Institute found that an important quality control mechanism in baker's yeast is closely connected to hypomyelinating leukodystrophy, a debilitating disease found in children. The findings could indicate a therapeutic approach for this rare disease, as well as for multiple sclerosis and other neurodegenerative diseases.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
556Background: Cortical β amyloid (Aβ) depositions as evident in Alzheimer’s disease can be visualized in vivo with amyloid PET tracers like [18F]Florbetaben (FBB). These tracers also bind - independently from Aβ - to myelin in the brain white matter (WM). Employing FBB in imaging multiple sclerosis showed promising initial results, while further studies in other WM diseases are currently missing. Aim: We quantified and compared the FBB in vivo uptake in patients with different WM diseases to that in non-WM-diseased controls. We hypothesized a decreased WM tracer aggregation in WM-diseased patients as ...
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Psychiatry and Specialized Neurology Imaging Source Type: research
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