Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD)

To describe the genetic variants in the ARSA gene in Sri Lankan patients with metachromatic leukodystrophy (MLD). As the variant profile of MLD in the Sri Lankan population is currently unknown.
Source: BMC Research Notes - Category: Research Authors: Tags: Research note Source Type: research

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This study identified several biomarkers which may be useful in the development of therapeutics for GLD.
Source: Molecular and Cellular Neuroscience - Category: Neuroscience Source Type: research
Abstract The myelin proteolipid protein gene (PLP1) encodes the most abundant protein in CNS myelin. Expression of the gene must be strictly regulated, as evidenced by human X-linked leukodystrophies resulting from variations in PLP1 copy number, including elevated dosages as well as deletions. Recently, we showed that the wmN1 region in human PLP1 (hPLP1) intron 1 is required to promote high levels of an hPLP1-lacZ transgene in mice, using a Cre-lox approach. The current study tests whether loss of the wmN1 region from a related transgene containing mouse Plp1 (mPlp1) DNA produces similar results. In addition, we...
Source: Neurochemical Research - Category: Neuroscience Authors: Tags: Neurochem Res Source Type: research
Authors: Inoue K Abstract Pelizaeus-Merzbacher disease (PMD) represents a group of disorders known as hypomyelinating leukodystrophies, which are characterized by abnormal development and maintenance of myelin in the central nervous system. PMD is caused by different types of mutations in the proteolipid protein 1 (PLP1) gene, which encodes a major myelin membrane lipoprotein. These mutations in the PLP1 gene result in distinct cellular and molecular pathologies and a spectrum of clinical phenotypes. In this chapter, I discuss the historical aspects and current understanding of the mechanisms underlying how differe...
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a rare type of leukodystrophy characterized by astrocyte and myelin vacuolization, epilepsy and early-onset macrocephaly. MLC is caused by mu...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
AbstractPelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy, which is clinically and radiologically similar to X-linked Pelizaeus-Merzbacher disease (PMD). PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI). We identified a 12-year-old Caucasian/Hispanic male with the classical clinical characteristics of PMLD with lack of myelination of the subcortical white matter, a...
Source: Human Genetics - Category: Genetics & Stem Cells Source Type: research
Apoptosis-Inducing Factor Mitochondria-associated-1 gene (AIFM1) encodes a mitochondrial flavin adenine dinucleotide-dependent nicotinamide oxidoreductase, which has a biological role in oxidative phosphorylation (OXPHOS) and in apoptosis pathway [1]. AIFM1 mutations have been reported to be associated with various neurological diseases, including Cowchock syndrome (OMIM 310490) [2], X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX4), X-linked deafness-5 (DFNX5; OMIM 300614) [3], and hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) [4].
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its deficiency results in accumulation of...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Publication date: Available online 22 October 2019Source: Stem Cell ResearchAuthor(s): S Masneri, G Lanzi, RM Ferraro, C Barisani, G Piovani, G Savio, M Cattalini, J Galli, C Cereda, M Muzi-Falconi, S Orcesi, E Fazzi, S GilianiAbstractAicardi-Goutières syndrome (AGS) is an early-onset monogenic encephalopathy characterized by intracranial calcification, leukodystrophy and cerebrospinal fluid lymphocytosis. To date, seven genes have been related to AGS. Among these, IFIH1 encodes for MDA5, a cytosolic double-stranded RNA receptor, and is responsible for AGS type7. We generated three isogenic iPSC clones, using a Send...
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Abstract Zellweger spectrum disorders (ZSD) constitute a group of rare autosomal recessive disorders characterized by a defect in peroxisome biogenesis due to mutations in one of 13 PEX genes. The broad clinical heterogeneity especially in late-onset presenting patients and a mild phenotype complicates and delays the diagnostic process. Here, we report a case of mild ZSD, due to novel PEX1 variants. The patient presented with an early hearing loss, bilateral cataracts, and leukodystrophy on magnetic resonance (MR) images. Normal results of serum very-long-chain fatty acids (VLCFA) and phytanic acid were found. Mol...
Source: J Appl Genet - Category: Genetics & Stem Cells Authors: Tags: J Appl Genet Source Type: research
Contributors : No émie Hamilton ; Jutta GaertnerSeries Type : Expression profiling by arrayOrganism : Danio rerioRNASET2-deficient leukoencephalophathy is a severe leukodystrophy affecting children with psychomotor impairements in their forst year of life. We generated the first zebrafish model for a human leukodystrophy by targetting the ortholog rnaset2 gene using mutagenesis. This zebrafish mutant recapitulated the human clinical manisfestations and developed white matter defects detectable by MRI. Additionally, this zebrafish mutant identified this disease as a lysosomal storage disorders, with RNA accumulating ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by array Danio rerio Source Type: research
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