Lawrence T. Reiter
Department of Neurology
University of Tennessee Health Science Center
Neuronal Stem Cells from Dental Pulp for Study of Neurogenetic Disease
Dr Reiter's laboratory at the University of Tennessee Health Science Center in Memphis, TN is conducting a research study to determine if neurons can be grown from the dental pulp of individuals with various neurogenetic syndromes including chromosomal duplications and deletions of human chromosome 15q.
What do we need to do to participate?
Participants will be required to submit a genetics report describing their duplication/deletion, Angelman syndrome or control status with regards to 15q. I will provide a tube of cell growth solution and a return package to you at no cost. Should you agree to participate you will only need to provide a fresh tooth specimen, either extracted or one that fell out on its own. Teeth must arrive at Dr. Reiter’s laboratory no more than 48hrs after the time they came out of the mouth and in the special media provided. For more information on how to participate, please contact Dr. Reiter directly (901) 448-2635 or by e-mail: firstname.lastname@example.org. Please note that you will need to have the tubes prior to collecting teeth. Please contact Dr. Reiter to request your collection tube. You will need to include a copy of your genetic report, which can easily be found on your registry page. Thank you to Dr. Reiter for his continued interest in Dup15q.
Phenotypic Analysis of Interstitial Duplication 15q11-q13 Patients
The role of UBE3A in autism spectrum disorders.
Dr. Reiter's lab studies a protein called UBE3A. The primary role of UBE3A is to target other proteins for degradation by the ubiquitin proteasome system. It has been known for some time now that maternally inherited mutations in UBE3A or deletions encompassing UBE3A can cause a severe neurological disorder called Angelman syndrome. More recently several groups have shown that interstitial duplication 15q patients preferentially inherit this duplication from their mothers. We believe that this maternal preference is a clear indication that duplication of the UBE3A gene is responsible for at least some aspects of the autism phenotype in these individuals. In a recent publication Dr. Carolyn Schanen has shown that at least some 15q duplication patients have elevated levels of UBE3A protein in their blood cells. Our hypothesis is that the proteins regulated by UBE3A are detrimentally affected by this elevation in UBE3A levels resulting in an autism phenotype.
What is the purpose of this study?
The focus of this study is to do an in depth analysis of interstitial duplication 15q patients in order to gain insights into which characteristics of this type of autism may be the result of UBE3A mis-regulation. The study will involve three days of tests that include a neurological exam, a blood draw, an EEG, language, and neuropsychiatric evaluations. We hope that by analyzing individuals with this small 15q duplication, we will be able to better understand which characteristics of autism are related directly to the up regulation of UBE3A levels.
Who do we want to recruit for this study?
Our goal is to recruit 40 interstitial duplication 15q11-q13 patients for this study. Since our focus is primarily on the phenotypic effects of the UBE3A gene, we are not recruiting patients with the larger isodicentric 15q duplication as the additional genes in this duplication will contribute to complicate the phenotypic analysis. Also, since this particular duplication is rare, the study is open to patients of all age groups. We will also be analyzing non-duplication autism controls for the study. This pilot study is currently being funded through the Shainberg Neuroscience Fund from Le Bonheur Children’s Hospital. Funds are available for travel to Memphis, housing and food. If interested please send Dr. Reiter a genetics report confirming the region duplicated on 15q.
Who do I contact?
Families who wish to learn more about this study please contact Dr. Lawrence T. Reiter in the Department of Neurology at the University of Tennessee Health Science Center, Memphis, TN.
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