• Journal of The Korean Society of Inherited Metabolic disease
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• v.14 no.1
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• pp.54-59
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• 2014

Adrenoleukodystrophy is an X-linked genetic disease resulting from mutations in the ABCD1 gene. Cerebral adrenoleukodystrophy is one of the phenotypes of adrenoleukodystrophy and shows progressive demyelination of brain white matter and adrenal insufficiency. We report a nine year old male who presented with rapidly progressive cognitive and neurologic deterioration. He had abnormal findings in brain imaging and elevated very long chain fatty acid level in serum. Mutation analysis of ABCD1 revealed a c. 1252C>T (p.Arg418Trp) mutation which was previously known but not reported in Korea.

• Annals of Clinical Neurophysiology
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• v.23 no.1
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• pp.61-64
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• 2021

Adrenoleukodystrophy (ALD) is the most common peroxisomal disorder caused by mutations in the gene, ABCD1, causing abnormal accumulation of very-long-chain fatty acids in the nervous system and adrenal glands. There are various clinical manifestations of ALD. Here we report a 47-year-old male with adrenomyeloneuropathy with cerebral involvement who exhibited progressive gait disturbance and cognitive impairment. A novel frameshift variant (c.95del [p.Val32Alafs^*36]) in exon 1 of ABCD1 was identified. This report provides additional information regarding the various clinical characteristics of ALD.

• The Journal of Korea Institute of Information, Electronics, and Communication Technology
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• v.11 no.3
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• pp.313-318
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• 2018

A coaxial band rejection filter is designed and fabricated for a beam interacting cavity. The proposed filter has a quarter wavelength choke for the dominant mode of the cavity. The equivalent circuit of the coaxial band rejection filter is presented and the ABCD parameter os each part is derived to obtain the ABCD parameter of the entire filter. The scattering matrix was obtained from the ABCD matrix and the was simulated by MATLAB using the obtained scattering matrix. The coaxial band rejection filter structure was simulated using HFSS, and the results confirmed the simulation using the equivalent circuit was useful. The designed coaxial band rejection filter was fabricated with 6-1/8 flange. The fabricated filter was measured using a transition from 6-1/8 flange to N-type flange. The insertion loss of the fabricated filter is greater than 25 dB in the dominant mode of the cavity and less than 0.25 dB in the first higher order mode. The measurement results are in good agreement with the simulated results and meet the design specification.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.12 no.1
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• pp.49-53
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• 2012

X-linked adrenoleukodystrophy (ALD) is a rare inherited metabolic disease which results in impaired peroxisomal ${\beta}$-oxidation and the accumulation of very long chain fatty acids (VLCFA) in the adrenal cortex, the myelin of the central nervous system, and the testes. X-linked ALD is caused by mutations in the ABCD1 gene encoding an ATP-binding cassette transporter superfamily located in the peroxisomal membrane. This disease is characterized by a variety of phenotypes. The classic childhood cerebral ALD is a rapidly progressive demyelinating condition affecting the cerebral white matter before the age of 10 years in boys. We report the case of a 8-year-old with childhood cerebral X-linked ALD who developed inattention, hyperactivity, motor incoordination and hemiparesis. We diagnosed ALD with elevated plasma very long chain fatty acid level and diffuse high signal intensity lesions in both parieto-occipital white matter and cerebellar white matter in brain MRI. We identified a novel c.983delT (p.Met329CysfsX7) mutation of the ABCD1 gene. There is no correlation between X-ALD phenotype and mutations in the ABCD1 gene. Further studies for searching additional non-genetic factor which determine the phenotypic variation will be needed.

• Journal of the Korean Child Neurology Society
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• v.23 no.2
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• pp.45-50
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• 2015

Purpose: X-linked adrenoleukodystrophy (X-ALD) is a fatal, axonal demyelinating, neurodegenerative disease, and is caused by mutations the in ABCD1 (ATP-binding cassette transporter subfamily D member 1). Oxidative damage of proteins caused by very long chain fatty acid accumulating in X-ALD, is an early event in the neurodegenerative cascade. We evaluated valproic acid (VPA) as a possible option for oxidative damage in X-ALD. Method: We generated fibroblast of the childhood cerebral ALD from patient. We evaluated mRNA (ribonucleic acid) level of ABCD2 by real-time polymerase chain reaction, and reactive oxygen species (ROS) levels by flow cytometry. Results: VPA increased expression of ABCD2 in both control and ALD fibroblast. ABCD2 gene mRNA expression was increased 1.76 fold in normal fibroblasts, and 2.22 fold in the X-ALD fibroblasts. ROS levels were decreased in VPA treated X-ALD fibroblast, especially in treated with 1 mM of VPA. ROS levels revealed 13.7 in control fibroblast, on the other hand, 5.83 in X-ALD fibroblast treated with 1 mM of VPA. Conclusion: We propose VPA as a promising novel therapeutic approach in oxidant damage that warrants further clinical investigation in X-ALD.

• Journal of Genetic Medicine
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• v.10 no.1
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• pp.43-46
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• 2013

Adrenoleukodystrophy (ALD) is an X-linked disorder which has diverse constellation of clinical pictures, ranging from the severe childhood cerebral form to adrenocortical insufficiency without neurological manifestations. This disorder is caused by the mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membrane. ALD in most cases is inherited from one parent. Here, we report an incidentally identified sporadic case with ALD after traffic accident. He had adrenocortical insufficiency as well as abnormal findings in brain image. Genetic testing of ABCD1 gene revealed a previously reported mutation. With the description of clinical features of ALD in this patient, we discussed the difficulty in determining an appropriate therapeutic option for ALD patients with minimal neurological manifestation.

• The Journal of Korean Institute of Communications and Information Sciences
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• v.17 no.1
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• pp.90-97
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• 1992

An estimation method for the amplitude and phase response of transmission line is discussed. and applied to narrow band ISDN subscriber line. The ABCD parameters of line are evaluated from four impedance values: the standard termination impedence at activated and deactivated stares, and the input impedances of line which can be estimated at each state. Estimating input impedence, the “chirp” signal is used as incident signal and noise effect can be reduced by ensemble averaging. These ABCD parameter estimations might be applicable to ether uniform or nonuniform line. Cleary the magnitude and phase response can be obtained from estimated ABCD parameters. The numerical simulation results for N ISDN subscriber line model are included, and the estimation error introduced by deviation in load impedence is also anlyzed.

• Clinical and Experimental Pediatrics
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• v.57 no.9
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• pp.416-419
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• 2014

X-linked adrenoleukodystrophy (X-ALD) is a rare peroxisomal disorder, that is rapidly progressive, neurodegenerative, and recessive, and characteristically primary affects the central nervous system white matter and the adrenal cortex. X-ALD is diagnosed basaed on clinical, radiological, and serological parameters, including elevated plasma levels of very long chain fatty acids (VLCFA), such as C24:0 and C26:0, and high C24:0/C22:0 and C26:0/C22:0 ratios. These tests are complemented with genetic analyses. A 7.5-year-old boy was admitted to Department of Pediatrics, Chungnam National University Hospital with progressive weakness of the bilateral lower extremities. Brain magnetic resonance imaging confirmed clinically suspected ALD. A low dose adrenocorticotropic hormone stimulation test revealed parital adrenal insufficiency. His fasting plasma levels of VLCFA showed that his C24:0/C22:0 and C26:0/C22:0 ratios were significantly elevated to 1.609 (normal, 0-1.390) and 0.075 (normal, 0-0.023), respectively. Genomic DNA was extracted from peripheral whole blood samples collected from the patient and his family. All exons of ABCD1 gene were amplified by polymerase chain reaction (PCR) using specific primers. Amplified PCR products were sequenced using the same primer pairs according to the manufacturer's instructions. We identified a missense mutation (p.Arg163Leu) in the ABCD1 gene of the proband caused by the nucleotide change 488G>T in exon 1. His asymptomatic mother carried the same mutation. We have reported an unpublished mutation in the ABCD1 gene in a patient with X-ALD, who showed increased ratio of C24:0/C22:0 and C26:0/C22:0, despite a normal VLCFA concentrations.

• Journal of Industrial Convergence
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• v.19 no.6
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• pp.1-10
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• 2021

This study sought ways to strengthen the competitiveness of local governments using public diplomacy, especially in Chungcheongbuk-do, at a time when it is urgent to revitalize the local economy by attracting investment from domestic and foreign companies due to changes in the global supply chain. The main issues that have recently emerged in the global business environment include strengthening the localization of the global value chain, diversifying reshoring and supply chains, and creating an efficient global value chain through digital transformation. Therefore, this study emphasized the necessity of a strategy for public diplomacy based on these changes, and derived the response conditions and detailed strategies of Chungcheongbuk-do through SWOT analysis. In addition, based on the ABCD model, we set up a Chungbuk-type public diplomacy strategy and suggested strategic implications for upgrading Chungbuk's competitiveness.

• Microbiology and Biotechnology Letters
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• v.24 no.6
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• pp.657-663
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• 1996

Pseudomonas sp. P20 isolated from the polluted environment is capable of degrading biphenyl and 4-chlorobiphenyl. The pcbABCD genes responsible for degradation of biphenyl and 4-chlorobiphenyl were cloned using pBluescript SK(+) from the chromosomal DNA of Pseudomonas sp. P20 to construct pCK1 and pCK102, harbouring pcbABCD and pcbCD, respectively. The 2, 3-DHBP dioxygenase gene, pcbC, was cloned again from pCK102 by using pKT230 which is known as a shuttle vector and pKK1 hybrid plasmid was constructed. The E. coli KK1 transformant obtained by transforming the pKK1 into E. coli XL1-Blue showed 2, 3-DHBP dioxygenase activity. The specific 2, 3-DHBP dioxygenase activity of E. coli KK1 was similar to that of the E. coli CK102, but much higher than those of the natural isolates, Pseudomonas sp. DJ-12 and Pseudomonas sp. P20.