Altruism with Social Roots: An Emerging Literature

Revised: 2007-01.-- Published as an article in: Revista Desarrollo y Sociedad (2006), Semestre II, pp. 245-260.

A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neurotrophic Growth Factor (NGF). -- Case Presentation: We present the case of a female patient diagnosed with CIPA at the age of 8 months. The patient is currently 6 years old and her psychomotor development conforms to her age (RMN, SPECT and psychological study are in the range of normality). PCR amplification of DNA, followed by direct sequencing, was used to investigate the presence of NTRK1 gene mutations. Reverse transcriptase (RT)-PCR amplification of RNA, followed by cloning and sequencing of isolated RT-PCR products was used to characterize the effect of the mutations on NTRK1 mRNA splicing. The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene. One of these alterations, c.574+1G > A, is located at the splice donor site of intron 5. We also found a second mutation, c.2206-2 A > G, not previously reported in the literature, which is located at the splice acceptor site of intron 16. Each parent was confirmed to be a carrier for one of the mutations by DNA sequencing analysis. It has been proposed that the c.574+1G > A mutation would cause exon 5 skipping during NTRK1 mRNA splicing. We could confirm this prediction and, more importantly, we provide evidence that the novel c.2206-2A > G mutation also disrupts normal NTRK1 splicing, leading to the use of an alternative splice acceptor site within exon 17. As a consequence, this mutation would result in the production of a mutant NTRK1 protein with a seven aminoacid in-frame deletion in its tyrosine kinase domain. --Conclusions: We present the first description of a CIPA-associated NTRK1 mutation causing a short interstitial deletion in the tyrosine kinase domain of the receptor. The possible phenotypical implications of this mutation are discussed.

Contemporary mormon literature: Phyllis Barber's writing

612 p.

Review of World literature on Water Chestnut with implications for management in North America

Water chestnut (Trapa natans L.,sensu lato) is an annual, floating-leaved aquatic plant of temperate and tropical freshwater wetlands, rivers, lakes, ponds, and estuaries. Native to Eurasia and Africa, water chestnut has been widely gathered for its large nutritious seed since the Neolithic and is cultivated for food in Asia. Water chestnut is now a species of conservation concern in Europe and Russia. Introduced to the northeastern United States in the mid-1800s, the spread of water chestnut as a nuisance weed was apparently favored by cultural eutrophication. Water chestnut is considered a pest in the U.S. because it forms extensive, dense beds in lakes, rivers, and freshwater-tidal habitats.