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Congenital Central Hypoventilation Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
NPARM are missense, nonsense, frameshift, or truncation mutations that occur in PHOX2B exons 1, 2, or 3 [9]. PHOX2B frameshift and truncation mutants display reduced ability to bind to and induce nuclear translocation of neuronal calcium sensor protein HPCAL1 (VILIP-3), thus impeding the differentiation of immature sympathetic neurons and predisposing to neuroblastoma [10]. It appears that DBH, TLX2, RET, PHOX2B, and GFAP are target genes susceptible to the reduced activity of NPARM proteins. PARM occur in about 10% of CCHS cases that present with a more severe clinical profiles including CCHS and other neurocristopathies (i.e., HSCR and an increased risk for neuroblastoma) [11,12].
Altered Calcium Homeostasis in Old Neurons
Published in David R. Riddle, Brain Aging, 2007
All the mechanisms briefly described above involve transporting proteins, embedded in membranes, which are able to bind Ca2+ with various affinities and mediate the transmembrane movement of ions. Another set of proteins with an important role in cellular Ca2+ homeostasis is known under the general name of Ca2+-binding proteins (CaBP). Many of these proteins are soluble, and this higher degree of mobility allows them to interact with Ca2+ with different affinities at various locations, and consequently shape the Ca2+ signal (either by transporting Ca2+ away from or by significant Ca2+ buffering at the site of generation). One of the largest families of CaBP is characterized by the EF-hand Ca2+-binding domain, consisting of two perpendicular 10- to 12-residue, alpha-helix regions separated by a 12-residue loop region; EF-hand domains are often found in single or multiple pairs, giving rise to a huge variety of structural/functional variations in the proteins that form a family comprising more than 600 members [18]. The CaBP are divided into two functional, well-established categories. One, having calmodulin as the reference member, acts as a Ca2+ sensing mechanism that translates graded changes in [Ca2+]i that follow cell stimulation into a graded response initiated by the binding of these CaBP to various Ca2+-sensitive target enzymes. Within this category, a group of proteins, called the neuronal calcium-sensor (NCS) proteins, has recently acquired prominence due to the relatively specific localization and/or set of functions they perform [19]. One of these proteins, calsenilin, could be very relevant to the processes of neurodegeneration because, among other things, it can modify the processing of presenilins and regulate the processing of the amyloid precursor protein (APP), both intimately involved in the pathophysiological processes of Alzheimer’s disease [20].
Increased visinin-like protein-1, YKL-40, lipocalin-2, and IL-23 levels in patients with migraine
Published in Neurological Research, 2023
Ahmet Dündar, Vugar Cafer, Hamza Aslanhan, Hasan Hüseyin Özdemir, Ahmet Yilmaz, Mehmet Uğur Çevik
Visinin-like protein-1 (Vilip-1) is a neuronal calcium-sensor protein reported to be increased in the cerebrospinal fluid (CSF) after stroke. Therefore, it has been identified as a sign of neuronal damage [4]. It has been reported that vilip-1 molecule plays an active role in the pathophysiology of central nervous system (CNS) diseases such as schizophrenia and Alzheimer’s disease [5]. YKL-40 is a member of the mammalian chitinase-like protein family [6]. The function of YKL-40 has not been fully explained. As an inflammatory glycoprotein, it is thought to be involved in many pathophysiological processes, such as cell proliferation, migration, and chemotaxis [7,8]. It has been reported that the level of YKL-40 is elevated in the CSF in infectious and non-infectious CNS diseases [9]. In addition, it has been reported that serum YKL-40 levels are increased in CSF of Alzheimer’s patients and multiple sclerosis (MS) disease [10,11].
Temperature signaling underlying thermotaxis and cold tolerance in Caenorhabditis elegans
Published in Journal of Neurogenetics, 2020
Asuka Takeishi, Natsune Takagaki, Atsushi Kuhara
Non-transcriptional modulation likely involves a concentration change of cGMP and/or calcium through AFD-rGC and PDE activity. In addition to AFD-rGCs and PDEs, neuronal calcium sensor 1 (NCS-1), a calcium-binding protein related to vertebrate guanylate cyclase-activating proteins (GCAPs), was identified as modulator of AFD T* (Burgoyne, 2007; Wang et al., 2013). Mutants for NCS-1 show increased T* and defects in fast adaptation during warmer temperature shifts (Wang et al., 2013). As higher cGMP levels result in higher T* (Wasserman et al., 2011), it is suggested that NCS-1 functions to regulate cGMP levels through calcium-dependent negative feedback that inhibits AFD-rGCs or activates PDEs. Patch clamp experiments also show NCS-1 inhibits voltage-activated outward currents of the voltage-gated K+ channel (Wang et al., 2013). A recent study shows SLO-1/SLO-2 K+ channels contribute to modulate the kinetics of AFD adaptation (Aoki et al., 2018), and these repolarization mechanisms also seem to have important roles in tuning AFD T*.
Oxidative parameters, oxidative DNA damage, and urotensin-II in schizoaffective disorder patients
Published in Psychiatry and Clinical Psychopharmacology, 2019
Osman Hasan Tahsin Kilic, Ihsan Aksoy, Gulcin Cinpolat Elboga, Feridun Bulbul
Nucleotides are one of the main targets of oxidative stress. It causes scissions, breaks, and base modifications in DNA [11]. DNA mutations may affect the intracellular messenger systems leading to abnormal metabolic activity, alterations in gene expression, and membrane dysfunctions [19,52]. There are studies that reported changes in expression levels of genes in schizophrenia and bipolar disorder. For example, increased expression of neuronal calcium sensor-1 gene coding in the prefrontal cortex of subjects with both disorders was reported [53] and decreased expression of synapsin IIa and IIIa were in the hippocampus of subjects with both disorders were reported [54]. Although we detected an increase in oxidative DNA damage in schizoaffective disorder patients in our study, this difference did not show statistical significance. This is maybe because of our patient population was not big enough to reach statistical significance due to difficulties in adequate diagnosis. Oxidative DNA and RNA damage was shown in many studies in schizophrenia and bipolar disorder patients consistently in different samples such as blood and cerebrospinal fluid [52,55,56]. Reduced antioxidant capacity in our patients may have made their DNA susceptible to the damaging effects of oxidative stress. We have not identified any differences in terms of OSI and TOS levels between schizoaffective patients and control group. In the sole study with schizoaffective disorder patients, OSI and TOS levels were found higher in schizoaffective patients when compared with schizophrenia and bipolar disorder patients [26]. Our results were not compatible with the previous study, but when we consider the low TAS levels we have found in schizoaffective disorder patients, our results may also indicate an oxidative imbalance that is claimed to be disrupted in the previous study. In schizophrenia, a meta-analysis proposed that TAS levels were found to be lower in the first psychotic episode but significantly increased with antipsychotic treatment, therefore TAS levels may be a state marker [57]. Even though our study is not a prospective one, lower TAS levels we have found in schizoaffective patients in both symptomatic remission and non-remission may support the idea that TAS is more likely a trait marker rather than being a state marker and may play a role in disease pathophysiology.