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peripheral nervous system RNA decay

J J McMahon, E E Miller, D L Silver
Post-transcriptional mRNA metabolism has emerged as a critical regulatory nexus in proper development and function of the nervous system. In particular, recent studies highlight roles for the exon junction complex (EJC) in neurodevelopment. The EJC is an RNA binding complex composed of 3 core proteins, EIF4A3 (DDX48), RBM8A (Y14), and MAGOH, and is a major hub of post-transcriptional regulation. Following deposition onto mRNA, the EJC serves as a platform for the binding of peripheral factors which together regulate splicing, nonsense mediated decay, translation, and RNA localization...
December 2016: International Journal of Developmental Neuroscience
Antonio De Tommasi, Sabino Luzzi, Pietro I D'Urso, Claudio De Tommasi, Nicoletta Resta, Pasqualino Ciappetta
OBJECTIVE: Ganglioglioma is a primary central nervous system low-grade tumor composed of mixed populations of glial and neuroepithelial elements. METHODS: The authors report a case of ganglioglioma in a patient affected by Peutz-Jeghers syndrome, an autosomal dominant disease with varying expressions and incomplete penetrance responsible for an increased risk of gastrointestinal and other malignant tumor forms. RESULTS: The polymerase chain reaction products of exon 6 of STK11/LKB1 showed an abnormal pattern in the single-strand conformation polymorphism analysis...
November 2008: Neurosurgery
Katrin Koehler, Knut Brockmann, Manuela Krumbholz, Barbara Kind, Carsten Bönnemann, Jutta Gärtner, Angela Huebner
The triple A syndrome is caused by autosomal recessively inherited mutations in the AAAS gene and is characterized by achalasia, alacrima and adrenal insufficiency as well as progressive neurological impairment. We report on a 14-year-old girl with slowly progressive axonal motor neuropathy with conspicuous muscle wasting of hypothenars and calves as well as alacrima. The mutation analysis of the AAAS gene revealed a compound heterozygous mutation: a c.251G>A mutation in exon 2 that had been reported previously, and a novel c...
December 2008: European Journal of Human Genetics: EJHG
Ludger Schöls, Larissa Arning, Rebecca Schüle, Jörg T Epplen, Dagmar Timmann
Ataxia with ocular apraxia type 2 (AOA2) is an autosomal recessive, early onset ataxia caused by mutations in the senataxin (SETX) gene. Ocular apraxia and increased levels of alpha-fetoprotein are characteristic but not obligate markers of the disease. AOA2 is allelic with ALS4, a motor neuron disorder of early onset and autosomal dominant inheritance. We observed a two generation family with ataxia which started at age 14 and 17 in two sibs and at age 23 in their paternal uncle.Oculomotor disturbances included strabismus, saccadic pursuit and gaze evoked nystagmus...
April 2008: Journal of Neurology
Stefan David, Sorana Hila, Matthew Fosbrink, Horea Rus, Carol Lee Koski
The protein zero (P0) glycoprotein is an important component of compact peripheral nerve myelin produced by the glial cells of the mammalian peripheral nervous system. P0 mRNA expression is reduced following exposure of Schwann cells to sublytic C5b-9, the terminal activation complex of the complement cascade. Sublytic complement treatment decreased P0 mRNA by 81% within 6 h and required C5b-9 assembly. C5b-9 induced a threefold increase in both JNK1 activity and c-jun mRNA within 20 and 30 min, respectively, compared with cells treated with either human serum depleted of complement component C7 (C7dHS) or medium alone...
March 2006: Journal of the Peripheral Nervous System: JPNS
Yan Jiao, Jian Yan, Yu Zhao, Leah Rae Donahue, Wesley G Beamer, Xinmin Li, Bruce A Roe, Mark S Ledoux, Weikuan Gu
The waddles (wdl) mouse is a unique animal model that exhibits ataxia and appendicular dystonia without pathological abnormalities of either the central or the peripheral nervous systems. A 19-bp deletion in exon 8 of the carbonic anhydrase-related protein VIII gene (Car8) was detected by high-throughput temperature-gradient capillary electrophoresis heteroduplex analysis of PCR amplicons of genes and ESTs within the wdl locus on mouse chromosome 4. Although regarded as a member of the carbonic anhydrase gene family, the encoded protein (CAR8) has no reported enzymatic activity...
November 2005: Genetics
Masanori Nakagawa, Hiroshi Takashima
Hereditary neuropathies are classified into several subtypes according to clinical, electrophysiologic and pathologic findings. Recent genetic studies have revealed their phenotypic and genetic diversities. In the primary peripheral demyelinating neuropathies (CMT1), at least 15 genes have been associated with the disorders; altered dosage or point mutation of PMP22, GJB1, MPZ, EGR2, MTMR2, NDRG1, PRX, SOX10, GDAP1 and MTMR13/SBF2. In the primary peripheral axonal neuropathies (CMT2), at least 10 genes have been associated with these disorders; NEFL, KIF1B, MFN2, GAN1, LMNA, RAB7, GARS, TDP1, APTX, and SETX...
November 2004: Rinshō Shinkeigaku, Clinical Neurology
J S Malter
The ability to control gene expression is central to normal development and function. For a growing number of genes in the central nervous system and peripheral tissues, expression is determined by changes in the rate of mRNA decay. At a molecular level, regulated interactions between the mRNA target and sequence-specific binding proteins either inhibit or accelerate decay, affording tight control over gene expression. This review discusses several examples of such posttranscriptional gene regulation.
November 1, 2001: Journal of Neuroscience Research
D G Wilkinson, S Bhatt, P Chavrier, R Bravo, P Charnay
The process of segmentation, in which repeated homologous structures are generated along the anterior-posterior axis of the embryo is a widespread mechanism in animal development. In vertebrates, segmentation is most apparent in the somites and the peripheral nervous system, but the existence of repetitive bulges, termed neuromeres, in the early neural epithelium of vertebrates suggests that the CNS may also be segmented. Consistent with this, cranial ganglia and certain neurons are associated with specific hindbrain neuromeres...
February 2, 1989: Nature
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