%0 Journal Article
%T Evidence for population variation in TSC1 and TSC2 gene expression
%A Garilyn M Jentarra
%A Stephen G Rice
%A Shannon Olfers
%A David Saffen
%A Vinodh Narayanan
%J BMC Medical Genetics
%D 2011
%I BioMed Central
%R 10.1186/1471-2350-12-29
%X A PCR/primer extension assay was used to measure allele specific expression of TSC1 and TSC2 mRNAs in leukocytes isolated from normal volunteers. This assay can be used to measure "allelic expression imbalance" (AEI) in individuals by making use of heterozygous "marker" single nucleotide polymorphisms (SNPs) located within their mRNA.In this study we show for the first time that TSC1 and TSC2 genes exhibit allele-specific differences in mRNA expression in blood leukocytes isolated from normal individuals.These results support the possibility that allele-specific variation in TSC mRNA expression contributes to the variable severity of symptoms in TSC patients.Tuberous sclerosis complex (TSC) is an autosomal dominant neurogenetic disease caused by a mutation in either the TSC1 or TSC2 gene [1-3]. Roughly two-thirds of TSC cases reported in mutational and epidemiological studies are sporadic (simplex), while the remaining cases are familial [4-9]. Neurological symptoms include seizures, cognitive delay, impulsivity, attention deficit, and learning disabilities. TSC patients often present with characteristic brain lesions, including cortical tubers, subependymal nodules (SENs), and subependymal giant cell astrocytomas (SEGAs). The severity of neurological symptoms is variable, although mental retardation and intractable epilepsy are fairly common and are frequently the most debilitating symptoms [2,10,11].Lesions outside of the nervous system, including renal angiomyolipomas (AMLs), renal cysts, cardiac rhabdomyomas, facial angiofibromas, periungual fibromas, retinal hamartomas, and pulmonary lymphangioleiomyomas (LAM), are also characteristic of TSC [2,11]. Some of these lesions may result in life threatening events, such as hemorrhage into a large AML [12,13] or spontaneous pneumothorax or chylothorax from a ruptured LAM [14].Many of the hamartomatous growths associated with TSC are likely to be caused by loss of heterozygosity (LOH) due to a "second-hit" mutation tha
%U http://www.biomedcentral.com/1471-2350/12/29