ABSTRACT
A 29-year-old Spanish man presented with chronic intestinal pseudo-obstruction, progressive external ophthalmoplegia, peripheral neuropathy, and diffuse leukoencephalopathy. This combination of clinical features is characteristic of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Genetic analysis revealed a novel 18-base pair (bp) duplication (5044-5061 dup) in exon 8 of the thymidine phosphorylase (TP) gene. The mutation is predicted to produce a 6 amino acid insertion in the alpha-beta-domain of the protein. This 18-bp insertion in the thymidine phosphorylase gene is the first duplication mutation identified in MNGIE.
Subject(s)
5'-Nucleotidase/genetics , Mitochondrial Encephalomyopathies/genetics , Mutation , Ophthalmoplegia, Chronic Progressive External/genetics , 5'-Nucleotidase/chemistry , Adult , DNA Mutational Analysis/methods , Exons , Genotype , Humans , Male , Mitochondrial Encephalomyopathies/blood , Ophthalmoplegia, Chronic Progressive External/blood , Retrospective Studies , SpainABSTRACT
Se estudiaron 31 pacientes con diagnóstico de rinitis alérgica, a los cuales se les realizaron estudios de inmunidad celular tanto en vivo como in vitro. Los resultados indican que ésta se encuentra alterada, y que tal alteración no es dependiente del uso de medicamentos
