• male premutation carriers
  • We used proton magnetic resonance spectroscopy to compare neuronal integrity of a number of brain metabolites including N-Acetyl Aspartate, Creatine + Phosphocreatinine, Choline, myoInositol, and Glutamate containing substances (Glx) in 17 male premutation carriers of FraX and 16 male healthy control individuals. (biomedcentral.com)
  • FMRP
  • In both diseases the FMR1 gene product, Fragile X mental retardation protein (FMRP) is diminished, but in FXTAS this is believed to be mediated by RNA toxicity, while in FXS, FMRP is absent due to transcriptional silencing. (wikipedia.org)
  • FXS is caused by an expanded CGG trinucleotide repeat in the 5' untranslated region of the Fragile X Mental Retardation (FMR1) gene leading to epigenetic silencing and loss of expression of the Fragile X Mental Retardation protein (FMRP). (nih.gov)
  • Despite the known relationship between FMR1 CGG repeat expansion and FMR1 silencing, the epigenetic modifications observed at the FMR1 locus, and the consequences of the loss of FMRP on human neurodevelopment and neuronal function remain poorly understood. (nih.gov)
  • Using this panel of patient-specific, FXS iPSC models, we demonstrate aberrant neuronal differentiation from FXS iPSCs that is directly correlated with epigenetic modification of the FMR1 gene and a loss of FMRP expression. (nih.gov)
  • FMR1 (fragile X mental retardation 1) is a human gene that codes for a protein called fragile X mental retardation protein, or FMRP. (wikipedia.org)
  • CGG repeat, quantitative FMRP, FMR1 mRNA, activation ratio) were obtained for the premutation group. (springer.com)
  • the gene product, FMRP, regulates mRNA metabolism in the brain and thus controls the expression of key molecules involved in receptor signaling and spine morphology. (jci.org)
  • disease
  • The disease is caused by the expansion of a trinucleotide CGG repeat in the 5'-untranslated (UTR) region of the FMR1 gene. (specialtylabs.com)
  • With this exponential expansion of knowledge regarding the molecular basis for disease have come novel patterns of inheritance that challenge the basic principles of inheritance that have been taught for years. (glowm.com)
  • An autosomal recessive trait (disease) is expressed only when the mutant gene is present in a double dose (homozygous state). (glowm.com)
  • Widespread DNA polymorphism has been exploited through the use of restriction enzymes and, more recently, the polymerase chain reaction to create genetic markers and detect linkage to a growing list of human disease genes. (acnp.org)
  • Collaboration efforts are underway to collect pedigrees, bank cell lines, and search for genes contributing to schizophrenia, bipolar illness, alcoholism, and Alzheimer's disease. (acnp.org)
  • A growing number of molecular genetic studies aimed at identifying disease genes is now being added to this foundation of classical genetics. (acnp.org)
  • The degree of disease aggressiveness depends on the number of repeats and resultant alteration in the expression of several genes. (omicsonline.org)
  • Longer repeats are usually associated with earlier onset and more severe disease. (wikipedia.org)
  • FXTAS
  • But while we do not know what causes most cases of Parkinson's or Alzheimer's, we do know the specific trigger for all cases of FXTAS, since it is linked to the fragile X gene. (ucdavis.edu)
  • Mechanisms
  • Overall, 30% of the human genome consists of repetitive DNA sequences [ 5. McMurray CT. Mechanisms of trinucleotide repeat instability during human development. Nat Rev Genet. 2010; 11: 786-799. [ CrossRef ] ">5 ]. (lidsen.com)
  • normal
  • The American College of Medical Genetics defines a normal repeat length as between 5 and 44. (specialtylabs.com)
  • People who have repeat numbers in the normal range will not develop DM1 and cannot pass it to their children. (healthofchildren.com)
  • Both parents are heterozygous and possess one copy of the mutant gene and one copy of the normal or functional gene. (glowm.com)
  • The gene expression, called heterozygous-normal/low may cause PCOS-like excessive follicle-activity and hyperactive ovarian function when women are younger. (wikipedia.org)
  • Normal controls have less than 55 CGG repeats. (biomedcentral.com)
  • traits
  • These laws describe the inheritance of traits linked to single genes on chromosomes in the nucleus. (wikipedia.org)
  • individuals
  • However there was a differential increase in N-acetyl aspartate with aging in premutation FraX individuals compared to controls. (biomedcentral.com)
  • This is the first 1 H-MRS study to examine premutation FraX individuals. (biomedcentral.com)
  • The increase in the number of repeats over time leads to earlier development and increased severity of symptoms in affected individuals in successive generations. (lidsen.com)
  • Individuals with greater than 50 repeats are almost invariably symptomatic, with some noted exceptions. (wikipedia.org)
  • daughters
  • and (3) one-half the sons and daughters of a heterozygous female receive the mutant gene. (glowm.com)
  • Although
  • Although the transfer of a number of genes from these organelles to the nucleus prevents them from living independently, each still possesses genetic material in the form of double stranded DNA. (wikipedia.org)
  • Congenital myotonic dystrophy can also be inherited via the paternal gene, although it is said to be relatively rare. (wikipedia.org)
  • found
  • Indeed, a gene appeared to have been found when linkage was reported between bipolar illness and two DNA markers (HRAS and INS) on the short arm of chromosome 11 (21). (acnp.org)
  • region
  • Congenital myotonic dystrophy has been linked to a region on chromosome 7 that contains a muscle chloride channel gene. (thefreedictionary.com)
  • The RNA from the expanded trinucleotide repeat region forms intranucleoplasmic hairpin loops due to the extensive hydrogen bonding between C-G base pairs, and it has been demonstrated that these sequester the splicing regulator MBNL1 to form distinctive foci by labelling it with GFP and a probe oligonucleotide with the red-fluorescent dye Cyanine5 (Cy5) DM2 is caused by a defect of the CNBP gene on chromosome 3. (wikipedia.org)
  • symptoms
  • It is not possible to look at a person's repeat number and predict at what age he or she will begin to have symptoms or how the condition will progress. (healthofchildren.com)
  • While depression symptoms were associated with reduced respiratory sinus arrhythmia among control women, these variables were unrelated in the FMR1 premutation. (springer.com)
  • brain
  • Genes expressed in the brain are being cloned in large numbers and will ultimately be placed on the linkage map. (acnp.org)
  • Genetics
  • Now, genetics is a rapidly expanding specialty in which direct analysis of gene defects is possible, and the potential for correcting these defects is on the horizon. (glowm.com)