Assignment of the muscle-eye-brain disease gene to 1p32-p34 by linkage analysis and homozygosity mapping

Article Abstract:

The gene for muscle-eye-brain disease (MEB), an autosomal recessive disease of unknown etiology, has been assigned to chromosome 1p32-p34 by linkage analysis and homozygosity mapping in eight families with 12 affected people. In Walker-Warburg syndrome (WWS) a combination of muscle and brain problems like that of MEB is seen, as it is in Fukuyama congenital muscular dystrophy (FCMD). Findings of multipoint linkage analysis give a place to start for positional cloning of the disease gene. It may have an important role in brain development and muscle function. A way to test other congenital muscular dystrophy phenotypes, WWS especially, for linkage to the same locus now exists.

Finland, Usage, Brain, Muscles, Eye, Chromosome mapping, Genetic disorders

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Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder

Article Abstract:

A genetic survey has been conducted of the gene CLN2 in 74 families with late-infantile neuronal ceroid lipofuscinosis (LINCL). No mutations in CLN2 were found in 14 of the families. A total of 24 CLN2 mutations were found in the other LINCL families. The most common mutations included an intronic transversion of C to G in a splice junction and a change from C to T that causes premature termination of translation at amino acid 208 of 563. A substitution of Arg for His was associated with later onset age and a more protracted clinical phenotype.

Health aspects, Physiological aspects, Proteases, Nervous system, Lysosomes, Nerve degeneration

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The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter

Article Abstract:

The identification and characterization of a novel gene, major facilitator superfamily (MFS) domain containing 8 (MFSD8), for Turkish variant late-infantile-onset neuronal ceroid lipofuscinoses (vLINCL) is presented. The analysis has indicated the presence of at least three more genes in the Turkish families, further corroborating the great genetic heterogeneity of LINCLs.

Science & research, Research, Genetic research, Turkic peoples

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