Elucidating the spectrum of alpha thalassemia mutations in iran
With the benefit of early diagnosis by neonatal screening and early therapy, the acute presentation of classical galactosemia can be prevented. ASDs affect ~ 1% of the population, and are considered to be highly genetic in nature.The objectives of the current study were to report our experience with a group of galactosemic patients identified through the neonatal screening programs in northeastern Italy during the last 30 years. A large number (~600) of ASD-related genetic variations have been identified (sfari.org), and target gene functions are apparently quite diverse.A total of 18 different variations in the GALT gene were found in the patient cohort: 12 missense, 2 frameshift, 1 nonsense, 1 deletion, 1 silent variation, and 1 intronic. Increasing evidence indicates that dysfunction of NMDA receptors (NMDARs) at excitatory synapses is associated with ASDs.In support of this, human ASD-associated genetic variations are found in genes encoding NMDAR subunits.
The gene mutation is passed along through the generations, ensuring its preservation.
In this review, we will focus on NMDA receptors and summarize evidence supporting the hypothesis that NMDAR dysfunction contributes to ASDs, and, by extension, that correcting NMDAR dysfunction has therapeutic potential for ASDs. Clinical studies on ASDs have identified genetic variants of NMDAR subunit genes.
Specifically, de novo mutations have been identified in the GRIN2B gene, encoding the Glu N2B subunit.
New variations in the galactose-1-phosphate uridyltransferase (GALT) gene Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: Structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene E Viggiano, A Marabotti, AP Burlina, C Cazzorla, MR D’Apice, et al. An adverse or suboptimal fetal environment can cause irreversible changes in brain that can subsequently exert long-lasting effects through resetting a diverse array of biological systems including endocrine, immune and nervous.
Gene 559 (2015) 112–118 Galactosemia (OMIM 230400) is a rare autosomal recessive inherited disorder caused by deficiency of galactose-1-phosphate uridyltransferase (GALT; OMIM 606999) activity. It is evident from animal and imaging studies that subtle variations in the intrauterine environment can cause recognizable differences in brain structure and cognitive functions in the offspring.