Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor

Article Abstract:

Congenital insensitivity to pain with anhidrosis (CIPA) is associated with mutations in the TRKA gene, which encodes a high-affinity tyrosine kinase receptor for nerve growth factor. Eleven new TRKA mutations have been identified in seven families affected with CIPA. The families are from Kuwait, Italy, United Arab Emirates, Spain and Canada. The mutations occur in both the extracellular domain and the intracellular signal-transduction domain of the gene.

Physiological aspects, Pain, Peripheral nerve diseases, Peripheral nervous system diseases, Nerve growth factor, Anhidrosis

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Dual origins of Finns revealed by Y chromosome haplotype variation

Article Abstract:

The pattern of Y chromosome variation among Finns supports the dual origin hypothesis. Phylogenetic study of 77 haplotype configurations from 280 unrelated males from nine provinces suggests a population expansion from two common Y haplotypes. Significant differences between eastern and western areas of Finland with respect to Y haplotype variation are found. The archaeological evidence supports the results.

Finland, Demographic aspects, Human population genetics, Finns, Y chromosome

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Variation in the gene encoding the serotonin 2A receptor is associated with outcome of antidepressant treatment

Article Abstract:

The genetic predictors of treatment outcome in 1,953 patients with major depressive disorder who were treated with the antidepressant citalopram in the Sequenced Treatment Alternatives for Depression (STAR*D) study is presented. When considered along with the previous neurobiological findings, the new genetic data make a compelling case for a key role of the HTR2A in the mechanism of antidepressant action.

Pennsylvania, Health aspects, Care and treatment, Usage, Depression, Mental, Depression (Mood disorder), Serotonin, Serotonin receptors, Clinical report

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