Neuroimaging clinics of North America
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Neuroimaging is a potentially valuable tool to link individual differences in the human genome to structure and functional variations, narrowing the gaps in the casual chain from a given genetic variation to a brain disorder. Because genes are not usually expressed at the level of mental behavior, but are mediated by their molecular and cellular effects, molecular imaging could play a key role. This article reviews the literature using molecular imaging as an intermediate phenotype and/or biomarker for illness related to certain genetic alterations, focusing on the most common neurodegenerative disorders, Alzheimer's disease (AD) and Parkinson disease.
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Gene expression is a process of DNA sequence reading into protein synthesis. In cases of problems in DNA repair/apoptosis mechanisms, cells accumulate genomic abnormalities and pass them through generations of cells. The accumulation of mutations causes diseases and even tumors. ⋯ Some trials are testing patients with epigenetic treatments. Epigenetic therapy must be used with caution because epigenetic processes and changes happen constantly in normal cells, giving rise to drug off-target effects. Scientists are making progress in specifically targeting abnormal cells with minimal damage to normal ones.
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Neuroimaging Clin. N. Am. · Feb 2015
ReviewBrain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases.
In this article, the genotype-MR phenotype correlation of the most common or clinically important inherited metabolic diseases (IMD) in the pediatric population is reviewed. A nonsystematic search of the PubMed/Medline database of relevant studies about "genotype-phenotype correlation" in IMD was performed. Some MR phenotypes related to specific gene mutations were found, such as bilateral hypertrophy of inferior olives in patients harboring POLG and SURF1 mutations, and central lesions in the cervical spinal cord in patients with nonketotic hyperglycinemia harboring GLRX5 gene mutation.
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Neuroimaging Clin. N. Am. · Feb 2015
ReviewImaging genomics of Glioblastoma: state of the art bridge between genomics and neuroradiology.
Glioblastoma (GBM) is the most common and most aggressive primary malignant tumor of the central nervous system. Recently, researchers concluded that the "one-size-fits-all" approach for treatment of GBM is no longer valid and research should be directed toward more personalized and patient-tailored treatment protocols. ⋯ Imaging genomics represents a new era as a noninvasive surrogate for genomic and molecular profile identification. This article discusses the basics of imaging genomics of GBM, its role in treatment decision-making, and its future potential in noninvasive genomic identification.
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Neuroimaging Clin. N. Am. · Feb 2015
ReviewGenetic markers and their influence on cerebrovascular malformations.
Cerebrospinal vascular malformations are a group of anomalies affecting the arterial wall, the capillary arteriovenous interface, or the venous and lymphatic structures. Heritability and family studies allow identification of mutations in single genes associated with rare familial conditions causing cerebral or spinal vascular malformations, as is the case in hemorrhagic hereditary telangiectasia diseases. This article reviews the genetic and epigenetic influences increasingly reported in recent years as causal factors or triggers involved in the formation and growth of cerebromedullary vascular malformations.