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The Molecular Biology of Neurofibromatosis Type 1



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Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects cells from apoptosis. The major clinical featues of NF1 include multiple café-au-lait macules, skinfold freckles, iris Lisch nodules, and neurofibromas. The diagnostic criteria for clinical diagnosis have been well established. However, there are a small number of cases in which the diagnosis is not certain. The germline mutation rate for the NF1 gene is 10-fold higher than that observed for most other inherited diseases. Using a combination of different techniques, almost 95% of germline mutations can be detected. To date, only two firm genotype phenotype correlations have been reported. NF1 phenotype exhibits large variations within a family, evidence for modifying loci regulating the expression of an NF1 gene is beginning to emerge. We also are gaining knowledge on the molecular mechanisms associated with the development of different types of tumours. It is encouraging that the results of recent laboratory and clinical research are finally being translated into clinical trials. With the availability of high-throughput technologies, sophisticated animal models, and multi-centre clinical trials, the future for NF1 sufferers is looking optimistic. This book aims to provide an overview of the genetic and clinical aspects of NF1 and its role in both NF1-associated and sporadic tumour development. It emphasizes the recent developments in this field and some of the promising on-going clinical trials.






Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects cells from apoptosis. The major clinical featues of NF1 include multiple café-au-lait macules, skinfold freckles, iris Lisch nodules, and neurofibromas. The diagnostic criteria for clinical diagnosis have been well established. However, there are a small number of cases in which the diagnosis is not certain. The germline mutation rate for the NF1 gene is 10-fold higher than that observed for most other inherited diseases. Using a combination of different techniques, almost 95% of germline mutations can be detected. To date, only two firm genotype phenotype correlations have been reported. NF1 phenotype exhibits large variations within a family, evidence for modifying loci regulating the expression of an NF1 gene is beginning to emerge. We also are gaining knowledge on the molecular mechanisms associated with the development of different types of tumours. It is encouraging that the results of recent laboratory and clinical research are finally being translated into clinical trials. With the availability of high-throughput technologies, sophisticated animal models, and multi-centre clinical trials, the future for NF1 sufferers is looking optimistic. This book aims to provide an overview of the genetic and clinical aspects of NF1 and its role in both NF1-associated and sporadic tumour development. It emphasizes the recent developments in this field and some of the promising on-going clinical trials.


NF1 is an autosomal dominant tumour predisposition syndrome causing significant pain and morbidity for which limited treatment options are available. Neurofibromatoses are a group of genetic disorders that cause tumors to form on nerve tissue. Main funding by National Institutes of Health The European Molecular Biology Laboratory State Secretariat for Education Research and. A fragment of NF1 cDNA encoding the GAPrelated domain NF1 GRD was expressed immunoaffinity purified and assayed for effects on Nras p21 GTPase activity.


Nf1 Co To Jest

inattentive type Other features of NF1. NF2 is most commonly associated with the development of bilateral vestibular schwannomas however patients also have a. What genes are related to neurofibromatosis type 1? NF type 1 is caused by a mutation in a gene on chromosome 17. Neurofibromatosis type 1 NF1 is a common autosomal dominant . by A von Deimling 1995 Cited by 114 Neurofibromatosis type 1 pathology clinical features and molecular genetics. ABSTRACT Neurofibromatosis type 1 NF1 is one of the most common heritable autosomal dominant disorders. Ann Neurol 5561 Neurofibromatosis type 1 NFl or von Reckling hausen neurofibromatosis is one of the most common autosomal dominant disorders in humans. The Molecular Biology of Neurofibromatosis Type 1 Posted on Aug by Dhavendra Kumar Neurofibromatosis type 1 NF1 is a common autosomal dominantly inherited tumour predisposition syndrome affecting 0 individuals worldwide. NF1 ranges from mild to severe and can cause more symptoms in some people than in others. The protein suppresses tumors and inactivates the ras pathway. Neurofibromatosis type 1 NF1 is a common autosomal dominantly inherited tumour predisposition syndrome affecting 0 individuals worldwide. by C Mussi 2008 Cited by 160 Purpose Patients affected by neurofibromatosis type 1 NF1 have an increased risk of developing gastrointestinal stromal tumors GIST. The Molecular Biology of Neurofibromatosis Type 1 . The main manifestation of the disease is the development of symmetric nonmalignant brain tumours in the region of the cranial nerve VIII which is the auditory nerve that transmits sensory information from the inner ear to the. NF1associated GISTs are usually wild type for cKIT and plateletderived growth factor receptor PDGFR mutations and harbor a different oncogenic molecular mechanism. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. Neurofibromatosis Type 1 Medical Aspects study guide by jamiegarman7 includes 30 questions covering vocabulary terms and more. Neurofibromatosis Type 1 From Genotype to Phenotype Human Molecular Genetics. It is char acterized by abnormalities affecting tissues derived. Editors view affiliations.


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