Myotonic dystrophy: the role of RNA CUG triplet repeats

Article Abstract:

Myotonic dystrophy (MD), an autosomal dominant neuromuscular disorder, has been studied from the perspective of the role of RNA CUG triplet repeats, the major factor in pathogenesis of MD. The disease is unusually associated with a trinucleotide repeat that occurs in the 3' UTR of a disease gene. Myotonin protein kinase (DMPK) protein levels are low and it appears that there are differences between adult and congenital forms. DM, for which the molecular basis is complex and multistep, is associated with defects in various tissues and can be anticipated genetically, having symptoms that worsen over time and/or appear at an earlier age in successive generations.

Physiological aspects, Protein kinases, Genetic translation, Translation (Genetics)

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Candidate-gene association studies of schizophrenia

Article Abstract:

Candidate-gene association studies of schizophrenia are discussed. Family, twin and adoption studies have established clearly that genetic factors are important in etiology of schizophrenia but it is difficult to say that genes of major effect are not operating in a small proportion of cases. Many groups have used allele-sharing methods of linkage to schizophrenia believing such methods to be better for complex diseases, but it seems single-gene forms of the disease are extremely rare at most and likely nonexistent.

United Kingdom, Health aspects, Social aspects, Statistical Data Included, Usage, Drug therapy, Genetic aspects, Mental illness, Mental disorders, Chromosome mapping, Behavior genetics, Behavioral genetics, Familial diseases, Schizophrenia, Heredity, Human, Human heredity, Linkage (Genetics), Ashkenazim

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