A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families

Article Abstract:

A point mutation in an intronic branch site is responsible for atypical splicing of COL5A1 and in Ehlers-Danlos syndrome (EDS) type II in two families in the United Kingdom. EDS is a heterogeneous group of connective-tissue disorders that includes skeletal deformities, lax joints and skin fragility. The two families had the same marker allele, but no common genealogy has been found. A mutation at the lariat branch site has never been described before. It plays a central role in the collagen gene splicing mechanism . Type V collagen is important in causes of EDS type II. In-frame exon skip has a dominant-negative effect because of incorporation of the mutant pro alpha chain into the triple-helical molecule.

Genetic aspects, Connective tissue diseases, Collagen diseases

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Is the bottleneck cracked?

Article Abstract:

For those with mitochondrial DNA disease and the myoclonic epilepsy and ragged-red fiber (MERRF) syndrome, a significant bottleneck seems to occur by the time oocytes are mature. New data are making size and timing of the bottleneck better understood. Little segregation seems to occur between fertilization and birth. Increasing pressure has been placed on clinical geneticists for genetic counseling of those with mitochondrial DNA disease. Prospects for prenatal diagnosis are somewhat improved and will improve more if there is concerted international effort.

Health aspects, Planning, Physiological aspects, Mitochondria, Mitochondrial DNA, Genetic counseling

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The role of neuronal complexes in human X-linked brain diseases

Article Abstract:

Studies of human X-linked diseases are integrated with mouse genetic and proteomic studies of the postsynaptic proteome. Results show that proteomic profiling of N-methyl-D-aspartic acid (NMDA) receptor complexes/MAGUK associated signaling complexes (NRC/MASC) and postsynaptic density proteins provides a rich source of disease-relevant genes.

Science & research, Methyl aspartate, N-methyl-D-aspartate, Proteomics

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