Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene

Article Abstract:

Fatal familial insomnia, a genetic disease with neurological symptoms, is caused by an abnormal form of a protein called prion protein. Analysis of brain tissue from two related patients who died from fatal familial insomnia found prion protein. This protein was different from that found in brain tissue of three people who died from Creutzfeldt-Jakob disease, another prion-associated neurological disease. DNA analysis of the gene for prion protein in both patients found that the gene had a mutation at position 178 that resulted in a substitution of the amino acid asparagine for aspartic acid in the protein. A living family member who had the disease had the same mutation. Eleven of 29 relatives who were not affected by the disease also had the mutation.

Causes of, Prions, Prions (Proteins), Familial diseases, Nervous system diseases

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Identification of a Novel Common Genetic Risk Factor for Lumbar Disk Disease

Article Abstract:

A mutation of the gene for the alpha3 chain of collagen IX may be a risk factor for lumbar disk disease (LDD). In a study of 171 people with LDD and 321 people without, 12% of the LDD patients had the mutation compared to 5% of those without.

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Genetic Risk Factors for Lumbar Disk Disease

Article Abstract:

A mutation in the gene for type IX collagen appears to weaken the collagen fibers in the intervertebral disk, causing lumbar disk disease. Collagen is the most abundant protein in connective tissues.

Editorial, Gene mutations, Gene mutation, Collagen

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