• 대한유전성대사질환학회지
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• 제23권2호
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• pp.1-7
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• 2023

유전성 대사질환은 생화학적 대사 이상에 의해 발생하는 질환 군으로, 매우 다양할 뿐만 아니라 임상 양상이 서로 겹칠 수 있어 진단에 어려움을 겪을 수 있다. 과거에는 유전성 대사질환의 원인이 될 수 있는 유전자를 선정한 후 한 개씩 분석하는 방식으로 유전자 검사를 시행했다. 하지만, 최근에는 차세대 염기서열분석 기술이 발전함에 따라 유전성 대사질환과 관련된 수백-수천개의 유전자를 한꺼번에 분석하거나, 인간의 모든 유전자를 포함하는 엑솜/게놈 분석을 시행한 후 원인 유전자를 찾는 방식으로 유전 진단의 패러다임이 바뀌고 있다. 본 종설에서는 차세대 염기서열분석을 이용한 유전성 대사질환의 유전 진단 방법과 진단율 및 주의점 등을 살펴보고자 한다.

• 생명과학회지
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• 제31권8호
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• pp.778-785
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• 2021

오이 씨앗의 발아는 세포의 지방체내 저장지방의 분해 결과인 acyl-CoA의 글라이옥시좀으로 이동 후 베타 산화의 결과물인 acetyl-CoA의 글라이옥실산 회로로의 유입과 지방의 유동으로 촉발된다. Acetyl-CoA는 글라이옥실산 회로의 가동을 위한 탄소원을 제공하며 시트르산과 말산을 생성하며 글라이옥실산 회로의 작동을 유도한다. 지방 저장 종자의 발아에 있어서 글라이옥실산 회로는 필수적 요소이며, 그 결과물인 말산 및 숙신산의 미토콘드리아로의 이동은 TCA 회로의 가동과 옥살초산의 생성 및 세포질로의 유동으로 PEPCK에 의한 당신생을 가능하게 한다. 즉, 저장 지방을 원료로 여러 대사물질의 생산 및 이동과 다중의 대사경로를 통하여 발아 시 사용 가능한 에너지원인 포도당의 형태로 전환이 이루어진다. 이에 동반하여 많은 유전자의 발현 조절이 이루어지고, 세포내 소기관 특히 미소체로 대표되는 글라이옥시좀은 말산 합성효소(malate synthase)와 이소 시트르산 분해효소(isocitrate lyase)로 특화된다. 또 다른 acetyl-CoA의 유동은 carnitine을 매개로 하는 BOU (A BOUT DE SOUFFLE)의 작동이다. 이것은 카니틴의 대사와 관련하여 고등식물의 발달과 대사과정에서의 중요성이 확인된 것으로 사료된다.

• Biotechnology and Bioprocess Engineering:BBE
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• 제7권3호
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• pp.171-177
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• 2002

The metabolic flux pattern for L-histidine production was analyzed when glucose and/or acetate were used as carbon sources. Total L-histidine production was enhanced when mixed substrate (glucose and acetate) was used, compared wish that when either glucose or acetate was used as the sole carbon source. Theoretical maximum carbon fluxes through the main pathways for L-histldine production, cell growth, and ATP consumption for cell maintenance were obtained by the linear programming (LP) method. By comparison of the theoretical maximum carbon fluxes tilth actual ones, it was found that a large amount of glucose was actually used for maintenance of cell viability. On the other hand, acetate was used for cell growth. After depletion of acetate in the mixed substrate culture, the flux for glucose to L-histldine synthesis was markedly enhanced. A strategy for effective L-histidine production using both carbon sources was proposed.

• Biotechnology and Bioprocess Engineering:BBE
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• 제5권6호
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• pp.422-430
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• 2000

Mechanism of lignin biodegradation caused by basidiomycetes and the history of lignin biodegradation studies were briefly reviewed. The important roles of fungal extracellular ligninolytic enzymes such as lignin and manganese peroxidases (LiP and MnP) were also summarized. These enzymes were unique in their catalytic mechanisms and substrate specificities. Either LiP or MnP system is capable of oxidizing a variety of aromatic substrates via a one-electron oxidation. Extracellular fungal system for aromatic degradation is non-specific, which recently attracts many people working a bioremediation field. On the other hand, an intracellular degradation system for aromatic compounds is rather specific in the fungal cell. Structurally similar compounds were prepared and metabolized, indicating that an intracellular degradation strategy consisted of the cellular systems for substrate recognition and metabolic response. It was assumed that lignin-degrading fungi might be needed to develop multiple metabolic pathways for a variety of aromatic compounds caused by the action of non-specific ligninolytic enzymes on lignin. Our recent results on chemical stress responsible factors analyzed using mRNA differential display techniques were also mentioned.

• BMB Reports
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• 제50권11호
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• pp.537-538
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• 2017

Hypoxia affects various physiological and pathophyological processes. Hypoxia changes the expression of hypoxia-responsive genes through two main pathways. First, hypoxia activates transcription factors (TF) such as Hypoxia-inducible Factor (HIF). Second, hypoxia decreases the activity of Jumonji C domain-containing histone demethylases (JMJDs) that require $O_2$ and ${\alpha}$-Ketoglutarate (${\alpha}$-KG) as substrates. The JMJDs affect gene expression through their regulation of active or repressive histone methylations. Profiling of H3K4me3, H3K9me3, and H3K27me3 under both normoxia and hypoxia identified 75 TFs whose binding motifs were significantly enriched in the methylated regions of the genes. TFs showing similar binding strengths to their target genes might be under the 'metabolic control' which changes histone methylation and gene expression by instant changing catalytic activities of resident histone demethylases.

• Journal of Microbiology and Biotechnology
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• 제8권6호
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• pp.719-722
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• 1998

The addition of decane to biotransfonnation media containing Yarrowia lipolytica led to the accumulation of intennediate L-phenylacetaldehyde and L-phenethyl acetate during bioconversion of L-phenylalanine, whilst none of these products were obtained in conventional aqueous fennentations. The results obtained support an earlier hypothesis (Spinnler et al. 1996. Proc. Natl. A cad. Sci. USA 93: 3373-3376) that organic solvents, acting as "thermodynamic traps" for hydrophobic intermediates, can substantially alter metabolic fluxes.

• 미생물학회지
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• 제38권4호
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• pp.250-250
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• 2002

This study confirmed that white rot fungus Irpex lacteus was able to metabolize 2,4,6-trinitrotoluene (TNT) with two different initial transformations. In one metabolic pathway of TNT a nitro group was removed from the aromatic ring of TNT. Hydride-Meisenheimer complexes of TNT (H/sup -/-TNT), colored dark redo were confirmed as the intermediate in this transformation by comparison with the synthetic compounds. 2,4-Dinitrotoluene as a following metabolic product was detected, and nitrite produced by denitration of $H^-$-TNT supported this transformation. In the other TNT pathway, nitro groups in TNT were successively reduced to amino groups via hydroxylamines. Hydroxylamino-dinitrotoluenes and amino-dinitrotoluenes were identified as the intermediates. The activity of a membrane-associated aromatic nitroreductase was detected in the cell-free extract of I. lacteus. This enzyme catalyzed the nitro group reduction of TNT with NADPH as a cofactor, Enzyme activity was not observed in the presence of molecular oxygen.

• Journal of Microbiology
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• 제38권4호
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• pp.250-254
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• 2000

This study confirmed that white rot fungus Irpex lacteus was able to metabolize 2,4,6-trinitrotoluene (TNT) with two different initial transformations. In one metabolic pathway of TNT a nitro group was removed from the aromatic ring of TNT. Hydride-Meisenheimer complexes of TNT (H$\^$-/-TNT), colored dark redo were confirmed as the intermediate in this transformation by comparison with the synthetic compounds. 2,4-Dinitrotoluene as a following metabolic product was detected, and nitrite produced by denitration of H$\^$-/-TNT supported this transformation. In the other TNT pathway, nitro groups in TNT were successively reduced to amino groups via hydroxylamines. Hydroxylamino-dinitrotoluenes and amino-dinitrotoluenes were identified as the intermediates. The activity of a membrane-associated aromatic nitroreductase was detected in the cell-free extract of I. lacteus. This enzyme catalyzed the nitro group reduction of TNT with NADPH as a cofactor, Enzyme activity was not observed in the presence of molecular oxygen.

• 대한약학회:학술대회논문집
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• 대한약학회 2003년도 Proceedings of the Convention of the Pharmaceutical Society of Korea Vol.2-2
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• pp.195.3-196
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• 2003

In this study, we investigated the molecular pathways targeted by platycodin D, which could involve apoptosis in immortalized human keratinocytes (HaCaT). We demonstrated that platycodin D-mediated apoptosis of HaCaT cells exhibited representative features, including DNA fragmentation, caspase-3, caspase-8 activation, and upregulation of Fas and FasL expression, but not p53 activation. To investigate the events involved in activation-induced FasL upregulation, we have examined mRNA accumulation, protein expression, and NF-$\kappa$B activity to elucidate transcription level in the HaCaT cell line treated with platycodin D. (omitted)

• 식물조직배양학회지
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• 제24권4호
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• pp.233-238
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• 1997

Salicylic acid (SA) is involved in the establishment of systemic acquired resistance (SAR) in many plant including tobacco. Considering the important role of SA in disease resistance, biosynthetic and metabolic pathways of SA in tobacco have been studied extensively: The initial step for biosynthetic pathway of SA is conversion of phenylalanine to trans-cinnamic acid, followed by decarboxylation of trans-cinnamic acid to benzoic acid and ie subsequent ring hydroxylation at the C-2 position to form SA. In TMV inoculated tobacco, most of the newly synthesized SA is glucosylated or methylated. Methyl salicylate has been identified as a biologically active, volatile signal. In contrast, the two glucosylated forms accumulate in the vicinity of lesions and consist of SA glucoside, a major metabolite, and SA glucose ester, a relatively minor from. Two enzymes involved in SA biosynthesis and metabolism have been purified and characterized : benzoic acid 2-hydroxylase which catalyzes conversion of benzoic acid to SA; UDP-Glucose: SA 1-O-D glucosyltransferase which converts SA to SA glucose ester. Further studies of the biosynthetic and metabolic pathways of SA will help to elucidate the SAR signal transduction pathway and provide potential tools for the manipulation of disease resistance.