Infantile autism is a neurodevelopmental disorder characterized by impairments in communication, reciprocal social interaction and restricted repetitive behaviors or interests. Although the cause of these disorders is not yet known, studies strongly suggest a genetic basis with a complex mode of inheritance. The etiopathogenetic processes of autism are extremely complex, which is reflected in the varying course and its symptomatology. Trajectories of brain development and volumes of its structures are aberrant in autistic patients. It is suggested that disturbances in sertotoninergic, gabaergic, glutaminergic, cholinergic and dopaminergic neurotransmission can be responsible for symptoms of autism as well as can disturb the development of the young brain. The objective of this article is to present the results of reasearch on neuroanatomical, neurochemical and genetic aspects of autism.
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Biomedicines
January 2025
Department of Anatomy & Cell Biology, Oklahoma State University Center for Health Sciences, Tulsa, OK 74107, USA.
Speech disorders encompass a complex interplay of neuroanatomical, genetic, and environmental factors affecting individuals' communication ability. This review synthesizes current insights into the neuroanatomy, genetic underpinnings, and environmental influences contributing to speech disorders. Neuroanatomical structures, such as Broca's area, Wernicke's area, the arcuate fasciculus, and basal ganglia, along with their connectivity, play critical roles in speech production, comprehension, and motor coordination.
View Article and Find Full Text PDFNeurogenetics
January 2025
Department of Pediatrics, Erciyes University, Faculty of Medicine, Kayseri, Turkey.
The cytoskeleton, composed of microtubules, intermediate filaments and actin filaments is vital for various cellular functions, particularly within the nervous system, where microtubules play a key role in intracellular transport, cell morphology, and synaptic plasticity. Tubulin-specific chaperones, including tubulin folding cofactors (TBCA, TBCB, TBCC, TBCD, TBCE), assist in the proper formation of α/β-tubulin heterodimers, essential for microtubule stability. Pathogenic variants in these chaperone-encoding genes, especially TBCD, have been linked to Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum (PEBAT, OMIM #604,649), a severe neurodevelopmental disorder.
View Article and Find Full Text PDFG3 (Bethesda)
January 2025
W. Harry Feinstone Department of Molecular Microbiology and Immunology, Johns Hopkins Malaria Research Institute, Johns Hopkins Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD 21205, USA.
The mosquito Aedes aegypti is an emerging model insect for invertebrate neurobiology. We detail the application of a dual transgenesis marker system that reports the nature of transgene integration with circular donor template for CRISPR-Cas9-mediated homology-directed repair at target mosquito chemoreceptor genes. Employing this approach, we demonstrate the establishment of cell-type-specific T2A-QF2 driver lines for the A.
View Article and Find Full Text PDFBrain Sci
January 2025
Department of Biochemistry, Wake Forest University School of Medicine, Winston-Salem, NC 27157, USA.
Charcot first described ALS in 1869, but the specific mechanisms that mediate the disease pathology are still not clear. Intense research efforts have provided insight into unique neuroanatomical regions, specific neuronal populations and genetic associations for ALS and other neurodegenerative diseases; however, the experimental results also suggest a convergence of these events to common toxic pathways. We propose that common toxic pathways can be therapeutically targeted, and this intervention will be effective in slowing progression and improving patient quality of life.
View Article and Find Full Text PDFJ Sex Marital Ther
January 2025
Department of Interdisciplinary Studies, University of South Florida, Tampa, FL, USA.
This paper critically examines the scientific and ethical underpinnings of gender-affirming care, particularly for minors. While major medical organizations endorse such interventions as medically necessary, the evidence supporting their long-term safety and efficacy remains limited. Research into hormonal, neuroanatomic, and genetic influences reveals a strong biological basis for gender identity, challenging social constructionist arguments.
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