Browsing by Author "Morrison, Alanna C."
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Item Characteristics of a spina bifida population including North American Caucasian and Hispanic individuals(Birth Defects Research Part A: Clinical and Molecular Teratology, 2008-10) Au, Sing Kit; Tran, Phong X.; Tsai, Chester C.; O'Byrne, Michelle R.; Lin, Jone-Ing; Morrison, Alanna C.; Hampson, Amy W.; Cirino, Paul T.; Fletcher, Jack M.; Ostermaier, Kathryn K.; Tyerman, Gayle H.; Doebel, Sabine; Northrup, HopeBACKGROUND. Meningomyelocele (MM) is a common human birth defect. MM is a disorder of neural development caused by contributions from genes and environmental factors that result in the neural tube defect and lead to a spectrum of physical and neurocognitive phenotypes. METHODS. A multi-disciplinary approach has been taken to develop a comprehensive understanding of MM through collaborative efforts from investigators specializing in genetics, development, brain imaging, and neurocognitive outcome. Patients have been recruited from five different sites: Houston and the Texas-Mexico border area; Toronto, Canada; Los Angeles, California; and Lexington, Kentucky. Genetic risk factors for MM have been assessed by genotyping and association testing using the transmission disequilibrium test. RESULTS. A total of 509 affected child/parent trios and 309 affected child/parent duos have been enrolled to date for genetic association studies. Subsets of the patients have also been enrolled for studies assessing development, brain imaging, and neurocognitive outcomes. The study recruited two major ethnic groups with 45.9% Hispanics of Mexican descent and 36.2% North American Caucasians of European descent. The remaining patients are African American, South and Central American, Native American and Asian. Studies of this group of patients have already discovered distinct corpus callosum morphology and neurocognitive deficits that associate with MM. We have identified maternal MTHFR 667T allele as a risk factor for MM. In addition, we also found that several genes for glucose transport and metabolism are potential risk factors for MM. CONCLUSIONS. The enrolled patient population provides a valuable resource for elucidating the disease characteristics and mechanisms for MM development.Item Folate metabolism gene 5, 10-methylenetetrahydrofolate reductase (MTHFR) is associated with ADHD in myelomeningocele patients(PLoS ONE, 2012-12) Spellicy, Catherine J.; Northrup, Hope; Fletcher, Jack M.; Cirino, Paul T.; Dennis, Maureen; Morrison, Alanna C.; Martinez, Kit Sing AuThe objective of this study was to examine the relation between the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene and behaviors related to attention- deficit/hyperactivity disorder (ADHD) in individuals with myelomeningocele. The rationale for the study was twofold: folate metabolizing genes, (e.g. MTHFR), are important not only in the etiology of neural tube defects but are also critical to cognitive function; and individuals with myelomeningocele have an elevated incidence of ADHD. Here, we tested 478 individuals with myelomeningocele for attention-deficit hyperactivity disorder behavior using the Swanson Nolan Achenbach Pelham-IV ADHD rating scale. Myelomeningocele participants in this group for whom DNAs were available were genotyped for seven single nucleotide polymorphisms (SNPs) in the MTHFR gene. The SNPs were evaluated for an association with manifestation of the ADHD phenotype in children with myelomeningocele. The data show that 28.7% of myelomeningocele participants exhibit rating scale elevations consistent with ADHD; of these 70.1% had scores consistent with the predominantly inattentive subtype. In addition, we also show a positive association between the SNP rs4846049 in the 3'-untranslated region of the MTHFR gene and the attention-deficit hyperactivity disorder phenotype in myelomeningocele participants. These results lend further support to the finding that behavior related to ADHD is more prevalent in patients with myelomeningocele than in the general population. These data also indicate the potential importance of the MTHFR gene in the etiology of the ADHD phenotype.