Genomic Engineering Group / InteLAB
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Wednesday, 27 May 2020
Human Molecular Genetics
Our interest in human molecular genetics is mainly focused in studies related to the Fragile X Syndrome (FXS). FXS is a very interesting subject that has been used in our group to test metabolic engineering computational methods and to investigate a broad range of other issues, from clinical studies and diagnostics to evolutionary conserved intergenic sequences by comparative genomics. The Fragile X Mental Retardation Protein (FMRP) is now being assigned a very important role in several cognitive functions and important alterations in neural plasticity in the cerebral cortex.

  • Fragile-X Syndrome  ( 2 items )

    Fragile X syndrome, FraX or FXS, is a frequent cause (In fact, the most important inherited form) of mental retardation resulting from the absence of the Fragile X Mental Retardation Protein (FMRP), encoded by the fmr1.
    FMRP contains RNA-binding motifs (KH and RGG box), and both a nuclear location signal (NLS) and a nuclear export signal (NES). The presence of these motifs suggested that FMRP might have a function in transport of the RNA from the nucleus to the cytoplasm. Some studies show that FMRP could be involved in the translation of some mRNA, mainly at synapses. gene at Xq27.3. The disease is caused by an expanded CGG repeat in the 5’ untranslated region.

  • Diagnostics  ( 1 items )

    As molecular biology techniques become more readily available for clinical diagnostics, it is important to evaluate and compare the efficacy of different methodologies. In places where the public health system is deficient one has to consider the impact on diagnostics of advanced but not so expensive techniques. In our group we are concerned with the evaluation and development of diagnostics protocols that are at the same time more reliable and viable to the clinical laboratory.

  • Metabolism  ( 1 items )

    As part of our effort to understand Fragile X Syndrome symptoms we are investigating how glutamate receptors and ammonia metabolism may interfere with cognitive functions and behaviors. An extensive clinical study was carried out with patients administered with a commercial product called Face®, taken as amino acid supplement. Positive results at the clinical levels motivated us to investigate possible correlations found in patients. Wistar rats were used then in pre-clinical studies.

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