• Asian Pacific Journal of Cancer Prevention
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• 제16권17호
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• pp.7393-7400
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• 2015

Matrix metalloproteinase (MMP) 9, a key member of multifunctional family of zinc dependent endopeptidases has been found to be upregulated during inflammation and in some cancers. MMPs cleave extracellular matrix (ECM) proteins and play critical roles in cellular apoptosis, angiogenesis, tumor growth and metastasis. Several genetic polymorphisms have been identified that show allele specific effects on MMP9 regulation and are associated with gastric cancer, the fourth most common malignancy in the world. Besides Helicobacter pylori infection, genetic predisposition is another documented risk factor for gastric carcinoma. The single nucleotide polymorphism (SNP) at position -1562C/T of MMP9 results in the modulation for binding of transcription factors to the MMP9 gene promoter and thereby causes differences in protein expression and enzymatic activity. MMP9 transcriptional regulation during gastric cancer development remains poorly known although several studies have demonstrated associations between MMP9 -1562 C/T polymorphism with different diseases. Knowledge on mechanisms of MMP9 upregulation during gastric cancer may provide new paradigm in diagnostics and therapeutics.

• Journal of Genetic Medicine
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• 제19권2호
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• pp.111-114
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• 2022

Many monogenic neurodevelopmental disorders have been newly identified in recent years owing to the rapid development of genetic sequencing technology. These include variants of the epigenetic machinery - up to 300 known epigenetic factors of which about 50 have been linked to specific clinical phenotypes. Chromodomain, helicase, DNA binding 1 (CHD1) is an ATP-dependent chromatin remodeler, known to be the causative gene of the autosomal dominant neurodevelopmental disorder Pilarowski-Bjornsson syndrome. Patients exhibit various degrees of global developmental delay, autism, speech apraxia, seizures, growth retardation, and craniofacial dysmorphism. We report the first case of Pilarowski-Bjornsson syndrome in Korea, due to a de novo missense variant of the CHD1 gene (c.862A>G, p.Thr288Ala) in a previously undiagnosed 17-year-old male. His infantile onset of severe global developmental delay, intellectual disability, speech apraxia, and failure to thrive are compatible with Pilarowski-Bjornsson syndrome. We also noted some features not previously reported in this syndrome such as skeletal dysplasia and ichthyosis. Further studies are needed to discover the specific phenotypes and pathogenic mechanisms behind this rare disorder.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제21권3호
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• pp.141-146
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• 2010

This summary of literature during the past year reviews published studies relating to risk factors for depressive disorders in children and adolescents. Risk factors include environmental toxins, socio-environmental, and genetic factors. As depression has a complex, multifactorial causal mechanism, it is likely that the accumulation and/ or interaction among multiple risk factors lead to depression. Findings related to the result of toxin exposure have been difficult to interpret given that risk factors tend to interact and that higher mental functions are not easily measurable. However, some findings have been consistent. Clinical research data has also shown that the risk for negative outcomes may be modified both by genetic and environmental factors through a gene environment interplay mechanism.

• Journal of Genetic Medicine
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• 제18권1호
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• pp.44-47
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• 2021

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc. Until recently very few number of cases have been reported. Here we report a case of 1.5-year-old boy who had epilepsy (epileptic spasm and generalized tonic clonic seizure), intellectual disability, microcephaly, hypotonia and speech delay. His magnetic resonance imaging of brain showed cortical atrophy and electroencephalography showed burst suppression pattern. The diagnosis was confirmed by clinical exome sequencing which showed novel mutation of SLC6A8+ in exon 9, suggestive of X linked recessive CCDS. The patient was then treated with glycine, L-arginine and creatine monohydrate with multiple antiepileptic drugs.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• 제22권1호
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• pp.3-9
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• 2011

Autism and autistic spectrum disorder are chronic neuro-developmental disorders characterized by social and language impairments and stereotyped, repetitive patterns of behavior. The etiology of autism remains unknown; however, a strong genetic component has been detected and environmental factors may also be involved in their etiologies. In the current study, we reviewed evidence for the presence of prenatal and perinatal factors, gastrointestinal factors, food allergies, metabolic and heavy metal factors, and other nutritional factors that may represent risk factors for the development of autism and autistic spectrum disorder.

• Journal of Audiology & Otology
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• 제25권4호
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• pp.230-234
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• 2021

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

• 대한청각학회지
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• 제25권4호
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• pp.230-234
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• 2021

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. However, otosclerosis is a progressive disorder. In this report, we discuss two cases of familial otosclerosis with different clinical features. We hypothesize that the difference in hearing level correlates with the difference in computed tomography findings. The mother, whose case was considered severe, was prescribed hearing aids, while the daughter, who had normal hearing level, was regularly followed up.

• Clinical and Experimental Pediatrics
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• 제55권7호
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• pp.224-231
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• 2012

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion, maternal disomy, and deficient imprinting) are recognized. Maternal disomy can arise because of 4 possible mechanisms: trisomy rescue (TR), gamete complementation (GC), monosomy rescue (MR), and postfertilization mitotic nondisjunction (Mit). Recently, TR/GC caused by nondisjunction at maternal meiosis 1 has been identified increasingly, as a result of advanced maternal childbearing age in Korea. We verified that the d3 allele increases the responsiveness of the growth hormone (GH) receptor to endogenous GH. This paper also provides an overview of endocrine dysfunctions in children with PWS, including GH deficiency, obesity, sexual development, hypothyroidism, and adrenal insufficiency, as well as the effects of GH treatment. GH treatment coupled with a strictly controlled diet during early childhood may help to reduce obesity, improve neurodevelopment, and increase muscle mass. A more active approach to correct these hormone deficiencies would benefit patients with PWS.

• 생물정신의학
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• 제18권4호
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• pp.181-188
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• 2011

Major depression is a devastating disorder of which lifetime prevalence rate is as high as up to 25% in general population. Although the etiology of the disorder is still poorly understood, it is generally accepted that both genetic and environmental factors are involved in the precipitation of depression. Stressful lifetime events are potent precipitating environmental factors for major depression and early-life stress is in particular an important element that predisposes individuals to major depression later in life. How environmental factors such as stress can make our neural networks susceptible to depression and how those factors leave long-lasting influences have been among the major questions in the field of depression research. Epigenetic regulations can provide a bridging mechanism between environmental factors and genetic factors so that these two factors can additively determine individual predispositions to major depression. Here we introduce epigenetic regulations as candidate mechanisms that mediate the integration of environmental adversaries with genetic predispositions, which may lead to the development of major depression, and summarize basic molecular events that underlie epigenetic regulations as well as experimental evidences that support the active role of epigenetic regulation in major depression.

• 대한유전성대사질환학회지
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• 제22권1호
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• pp.15-20
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• 2022

The most common urea cycle disorder is ornithine transcarbamylase deficiency. More than 80 percent of patients with symptomatic ornithine transcarbamylase deficiency are late-onset, which can present various phenotypes from infancy to adulthood. With no regards to the severity of the disease, characteristic fluctuating courses due to hyperammonemia may develop unexpectedly, and can be precipitated by various metabolic stressors. Late-onset ornithine transcarbamylase deficiency is not merely related to a type of genetic variation, but also to the complex relationship between genetic and environmental factors that result in hyperammonemia; therefore, it is difficult to predict the prevalence of neurological symptoms in late-onset ornithine transcarbamylase deficiency. Most common acute neurological manifestations include psychological changes, seizures, cerebral edema, and death; subacute neurological manifestations include developmental delays, learning disabilities, intellectual disabilities, attention-deficit/hyperactivity disorder, executive function deficits, and emotional and behavioral problems. This review aims to increase awareness of late-onset ornithine transcarbamylase deficiency, allowing for an efficient use of biochemical and genetic tests available for diagnosis, ultimately leading to earlier treatment of patients.