• Molecules and Cells
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• v.27 no.6
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• pp.621-627
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• 2009

Spinocerebellar ataxia type 1 (SCA1) is an autosomal-dominant neurodegenerative disorder characterized by ataxia and progressive motor deterioration. SCA1 is associated with an elongated polyglutamine tract in ataxin-1, the SCA1 gene product. As summarized in this review, recent studies have clarified the molecular mechanisms of SCA1 pathogenesis and provided direction for future therapeutic approaches. The nucleus is the subcellular site where misfolded mutant ataxin-1 acts to cause SCA1 disease in the cerebellum. The role of these nuclear aggregates is the subject of intensive study. Additional proteins have been identified, whose conformational alterations occurring through interactions with the polyglutamine tract itself or non-polyglutamine regions in ataxin-1 are the cause of SCA-1 cytotoxicity. Therapeutic hope comes from the observations concerning the reduction of nuclear aggregation and alleviation of the pathogenic phenotype by the application of potent inhibitors and RNA interference.

• Childhood Kidney Diseases
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• v.16 no.1
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• pp.1-8
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• 2012

Nocturnal polyuria is one of the main pathogenic mechanisms of enuresis. Disturbance of circadian rhythm of antidiuretic hormone (ADH or AVP), hypercalciuria, and/or solute diuresis are considered to cause nocturnal polyuria, which in turn causes enuresis in patients with relatively small bladder capacity and high threshold for awakening. Evaluation of these factors would guide the therapeutic approach for enuresis.

• BMB Reports
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• v.43 no.10
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• pp.649-655
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• 2010

Alzheimer's disease (AD) is the most common age-dependent neurodegenerative disorder and shows progressive memory loss and cognitive decline. Intraneuronal filaments composed of aggregated hyperphosphorylated tau protein, called neurofibrillary tangles, along with extracellular accumulations of amyloid $\beta$ protein (A$\beta$), called senile plaques, are known to be the neuropathological hallmarks of AD. In light of recent studies, epigenetic modification has emerged as one of the pathogenic mechanisms of AD. Epigenetic changes encompass an array of molecular modifications to both DNA and chromatin, including transcription factors and cofactors. In this review, we summarize how DNA methylation and changes to DNA chromatin packaging by post-translational histone modification are involved in AD. In addition, we describe the role of SIRTs, histone deacetylases, and the effect of SIRT-modulating drugs on AD. Lastly, we discuss how amyloid precursor protein (APP) intracellular domain (AICD) regulates neuronal transcription. Our understanding of the epigenomes and transcriptomes of AD may warrant future identification of novel biological markers and beneficial therapeutic targets for AD.

• Journal of Korean Neurosurgical Society
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• v.53 no.2
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• pp.108-111
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• 2013

Burr hole drainage has been widely used to treat chronic subdural hematomas (SDH), and most of them are easily treated by simple trephination and drainage. However, various complications, such as, hematoma recurrence, infection, seizure, cerebral edema, tension pneumocephalus and failure of the brain to expand due to cerebro-cranial disproportion may develop after chronic SDH drainage. Among them, intracerebral hemorrhage after evacuation of a recurrent chronic SDH is very rare. Here, we report a fatal case of delayed intracerebral hemorrhage caused by coagulopathy following evacuation of a chronic SDH. Possible pathogenic mechanisms of this unfavorable complication are discussed and a review of pertinent literature is included.

• Clinical and Experimental Pediatrics
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• v.57 no.7
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• pp.304-309
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• 2014

Benign convulsion with mild gastroenteritis (CwG) is a type of afebrile seizure that occurs in children. CwG is defined as a convulsion in a previously healthy child with no known central nervous system infection or encephalopathy, accompanying mild diarrhea without fever, electrolyte imbalance, or moderate to severe dehydration. Convulsions in CwG are characterized by multiple brief episodes of generalized or focal seizures. Although the etiology and pathophysiology have yet to be fully explained, many pathogenic mechanisms have been proposed including the possibility of direct invasion of the central nervous system by a gastrointestinal virus such as rotavirus or the possibility of indirect influence by the production and effects of certain mediators. The electroencephalogram findings are benign and long-term antiepileptic treatment is typically not required. Long-term prognosis has been favorable with normal psychomotor development. This review provides a general overview of CwG with the goal of allowing physicians practicing in the field of pediatrics to better recognize this unique entity and, ultimately, to minimize unnecessary evaluation and treatment.

• Biomedical Science Letters
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• v.22 no.4
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• pp.211-214
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• 2016

House dust mite is an essential allergen in the pathogenesis of allergic diseases. Abnormal regulation of neutrophil apoptosis is an important pathogenic process in allergic diseases. In the present study, we investigated the effects of house dust mites on spontaneous apoptosis of neutrophils and its associated mechanisms. Extract of Dermatophagoides pteronissinus (DP) inhibited neutrophil apoptosis in a time-dependent manner. Cycloheximide (CHX), an inhibitor of translation, increased apoptosis of DP-treated neutrophils as well as control cells. The pro-apoptotic effect of CHX was blocked by DP in neutrophils. In addition, DP increased the phosphorylation of Bad in a time-dependent manner, indicating that it exerted an inhibitory effect on the function of Bad. These results suggest that DP has anti-apoptotic effects of neutrophils and may regulate protein synthesis and activation of Bad. Moreover, these findings may shed light on elucidation of allergy pathogenesis due to house dust mites.

• Journal of Korean Neurosurgical Society
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• v.41 no.4
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• pp.261-263
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• 2007

Subdural hygromas are easily treated by trephination and drainage. Therefore, most neurosurgeons do not consider subdural hygromas seriously. However, various complications including intracerebral hemorrhage may develop after rapid drainage of subdural hygroma although rare. Postoperative intracerebral hemorrhage presents with a rapid deterioration of consciousness and focal neurological deficits occurring immediately after drainage of the subdural hygroma. The authors present an unfortunate massive intracerebral hemorrhage and pneumocephalus following drainage of the bifrontal subdural hygroma. The patient subsequently died. To prevent this disastrous complication, close neurosurgical observation and gradual drainage under a closed system seem mandatory. Possible pathogenic mechanisms for this unfavorable complication is discussed with a review of pertinent literatures.

• Journal of Korean Neurosurgical Society
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• v.53 no.3
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• pp.201-203
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• 2013

In most cases, subdural hematoma (SDH) is regarded as a complication of head injury and nontraumatic causes are rare. Moreover, spontaneous chronic SDH in child or adolescent is very unusual. Here, we present the case of a healthy 14-year-old girl who was diagnosed as a spontaneous chronic SDH. The patient presented with severe headache following blurring of vision two weeks ago without any history of trivial head injury. Computed tomography and magnetic resonance imaging depicted a chronic SDH. The cause of the hematoma was not established. After performing burr hole drainage of the hematoma, the patient made an uneventful recovery. We explore the potential risk factors and pathophysiology implicated in this condition. Possible pathogenic mechanisms of this unique case are discussed and a review of the pertinent literature is included.

• Archives of Craniofacial Surgery
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• v.17 no.4
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• pp.225-228
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• 2016

The entrapment of intracranial air from the check valve system results in a tension pneumocephalus. It should be distinguished from simple pneumocephalus because they are intracranial space-occupying masses that can threaten life. Communicating hydrocephalus is a serious and frequent complication of post-traumatic head injury. Head injury is one of the most common causes in etiopathogenesis of communicating hydrocephalus. Here, we describe a case of a 65-year-old man who developed communicating hydrocephalus after a post-traumatic tension pneumocephalus. To the best of our knowledge, this is the first reported case of communicating hydrocephalus developed after a post-traumatic tension pneumocephalus. Although the exact pathogenic mechanisms underlying the cascade following trauma remain unclear, communicating hydrocephalus after a tension pneumocephalus could be considered a possible complication.

• Journal of Periodontal and Implant Science
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• v.43 no.3
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• pp.111-120
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• 2013

Periodontitis is a common oral disease that is characterized by infection and inflammation of the tooth supporting tissues. While its incidence is highly associated with outgrowth of the pathogenic microbiome, some patients show signs of predisposition and quickly fall into recurrence after treatment. Recent research using genetic associations of candidates as well as genome-wide analysis highlights that variations in genes related to the inflammatory response are associated with an increased risk of periodontitis. Intriguingly, some of the genes are regulated by epigenetic modifications, supposedly established and reprogrammed in response to environmental stimuli. In addition, the treatment with epigenetic drugs improves treatment of periodontitis in a mouse model. In this review, we highlight some of the recent progress identifying genetic factors associated with periodontitis and point to promising approaches in epigenetic research that may contribute to the understanding of molecular mechanisms involving different responses in individuals and the early detection of predispositions that may guide in future oral treatment and disease prevention.