• Title/Summary/Keyword: inherited disease

Search Result 482, Processing Time 0.028 seconds

Dental Characteristics of Microcephalic Osteodysplastic Primordial Dwarfism Type II (소두증 골형성이상 원발성 왜소증 제 II 형의 치과적 특성)

  • Park, Haemin;Song, Ji-Soo;Shin, Teo Jeon;Hyun, Hong-Keun;Kim, Young-Jae;Lee, Sang-Hoon;Kim, Jung-Wook
    • Journal of the korean academy of Pediatric Dentistry
    • /
    • v.48 no.1
    • /
    • pp.50-63
    • /
    • 2021
  • Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) is an autosomal recessive inherited disorder form of primordial dwarfism, caused by mutations in the pericentrin gene. The purpose of the study was to examine the clinical and radiological features, physicochemical properties and microstructures of the tooth affected with MOPD II. The mandibular 2nd molar was collected from the MOPD II patient. Micro-computerized tomography, scanning electron microscopy, energy dispersive spectrometry and Vickers microhardness analysis were performed on the MOPD II and the normal control. The morphology of the MOPD II tooth appeared to have malformed pulp and root and showed a small size. The mineral density measurement showed that the MOPD II tooth had similar scores in the enamel, but lower scores in the root 1/2 and apical dentin compared to the normal control. The microhardness values were smaller in the cusp enamel, root 1/2 dentin and apical dentin of the MOPD II compared to the normal control. In this study, the dental characteristics and the physicochemical properties of a tooth affected with MOPD II were analyzed to improve understanding of the oral manifestations of the disease and to assist in proper dental treatment by identifying precautions.

The Origins, Changes, and Compositive Principles of Hyungbangjihwang-tang (형방지황탕(荊防地黃湯)의 기원(基源), 변천과정(變遷過程) 및 구성원리(構成原理))

  • So-Hyeon, Ryu;Su-Hyeon, Lee;Seong-Wook, Park;Seung-Won, Shin;Eui-Ju, Lee
    • Journal of Sasang Constitutional Medicine
    • /
    • v.34 no.4
    • /
    • pp.1-12
    • /
    • 2022
  • Objectives This paper investigates the origins, changes, and the constructive principles of Hyungbangjihwang-tang(荊防地黃湯). Methods Hyungbangjihwang-tang and other related prescriptions were analyzed in terms of their pathological indications, based on previous literature including 『Gogeumuigam(古今醫鑑)』, 『Sanghannon(傷寒論)』, 『Uihagjeongjeon(醫學正傳)』, 『Donguisusebowon·Sasangchobongwon(東醫壽世保元·四象草本卷)』, 『Donguisusebowon·Gabobon(東醫壽世保元·甲午本)』, 『Donguisusebowon·Sinchukbon(東醫壽世保元·辛丑本)』. Results and Conclusions The origins of Hyungbangjihwang-tang can be seen in three sections depending on the classification of medicinal herbs. Schizonepeta tenuifolia Briq.(荊芥), Saposhnikovia divaricata Schischk.(防風), Notopterygium incisum Ting(羌活), Aralia cordata Thunb.(獨活), and Plantago asiatica L.(車前子) originated from Hyungbangpaedok-san(荊防敗毒散) included in 『Gogeumuigam』. Poria cocos Wolf.(茯苓) and Alisma canaliculatum(澤瀉) originated from Ohryoung-san(五苓散) included in 『Sanghannon』. Rehmannia glutinosa for hueichingensis(熟地黃) and Cornus officinalis S. et Z.(⼭茱萸) originated from Yukmijihwang-tang(六味地黃湯) included in 『Uihagjeongjeon』. Hyungbangpaedok-san was transformed into "Paedok-san" in 『Chobongwon(草本卷)』, Hyungbangpaedok-san in the 『Gabobon(甲午本)』 and 『Sinchukbon(辛丑本)』. Yukmijihwang-tang was mentioned as a Soyangin medicine in the 『Chobongwon』 and was later transformed into a Suhwagije-tang(水火旣濟湯) in 『Gabobon』. The meaning of Yukmijihwang-tang inherited in 『Sinchukbon』 as Dokhwaljihwang-tang and Hyungbangjihwang-tang. The medicinal herbs in Hyungbangjihwang-tang can be categorized in three sections by their functions, Schizonepeta tenuifolia Briq., Saposhnikovia divaricata Schischk., Notopterygium incisum Ting, Aralia cordata Thunb., and Plantago asiatica L. scatter the Pyohan(表寒) and make the Pyoeum(表陰) drop. Poria cocos Wolf.(茯苓) and Alisma canaliculatum(澤瀉) make the Pyoeum(表陰) drop through Lee-su(利水). Rehmannia glutinosa for hueichingensis(熟地黃) and Cornus officinalis S. et Z.(⼭茱萸) tonify Shin-won(腎元). The each principles of medicinal herbs corresponds to the stage of the "Cold-related Diarrhea in Soyangin Spleen Cold-based Exterior Cold disease(少陽人 脾受寒表寒病 亡陰病 身寒腹痛亡陰證)".

Status of Tuberculosis Control in Rural Area (일부 농촌지역 결핵환자들의 관리 양상)

  • Park, Chan-Byoung;Chun, Byung-Yeol;Yeh, Min-Hae
    • Journal of agricultural medicine and community health
    • /
    • v.18 no.2
    • /
    • pp.141-151
    • /
    • 1993
  • This study was done about 371 tuberculosis(TB) patients composed 195 newly registered at Kyungju Gun Health Center from May 1989 to April 1990 (Group A) and 176 being treated at hospitals or private clinics from January 1988 to November 1989(Group B). When Group A patients visited and newly registered at Health Center, data was obtained by interviewing with a prepared questionnaire paper. And well trained inquirer visited Group B patients and obtained data by the same method from February 1990 to April 1990. The results are as follows ; Group A was generally lower than Group B in socioeconomic status and in family history of TB, the rate of Group A was 24.1% and higher than 11.9% in Group B(p<0.05). Knowledge about TB was improved more than past, but those who answered that TB is 'a communicable disease' were 59.5% in Group A and 51.7% in Group B(p<0.05). Those answered that TB is 'a inherited disease' were 9.2% and 11.4% each. And 1.7% of Group B answered that TB is 'a incurable disease'. Knowledge about TB treatment also was improved more than past, but in the rate of those who answered that TB is a curable disease provided by well treatment Group B(77.8%) was worse than Group A(91.3%). The rate of those who answered that TB were been able to cure by regularly anti-TB medication were 98.0% in Group A and 89.8% in Group B. Its difference was statistically significant. The rate that patients took the first diagnosis and wanted to receive treatments at the same organ were 34.9% of Group A at Health Center and 72.2% of Group B at hospitals or private clinics. And its difference was statistically significant. In the reasons that Group B knew Health Center treated pulmonary TB but they was treated at hospitals or private clinics, unreliability to Health Center was 48.1%. The reasons that Group A was treated at Health Center were 'because of trust' 63.1%, 'because of low cost' 50.3%, 'because of low cost except trust' 9.3%, 'no specific reasons' 27.7%. In the courses of knowing that TB was controlled at Health Center, 'by neighborhood, health worker and doctors' were 84.9% in Group A and 69.0% in Group B. But 'by TV or radio' were 8.2% in Group A and 14.7% in Group B, 'by school education' 2.5% in Group A and 6.2% in Group B. Conclusively, Group A patients were lower than Group B in socioeconomic status, but better than in knowledge about TB. Its reasons was suggested that Health Center had controlled TB patients better than hospitals and private clinics. But considering, that difference in the rate of the same organ for the first diagnosis and treatment, that the only 63.0% of Group A have treated due to 'reliability to Health Center', and that 48.1% of Group B knew that Health Center treated pulmonary TB but didn't visit it due to 'unreliability to Health Center', that public relations(PR) about use Health Center for pulmonary TB and health education for TB was thought to have to strengthened.

  • PDF

Ultrastructure of nasal cilia in children with recurrent or persistent respiratory diseases (반복 지속성 호흡기 질환 소아에서 비강 섬모의 미세구조 검사의 의의)

  • Shin, Su-A;Yang, Seung;Oh, Jae-Won;Lee, Ha-Baik;Park, Cheol-Eon;Kwan, Jung-Kyun
    • Clinical and Experimental Pediatrics
    • /
    • v.49 no.4
    • /
    • pp.410-416
    • /
    • 2006
  • Purpose : Ciliary abnormalities of the respiratory system usually accompany recurrent or persistent respiratory diseases such as paranasal sinusitis, bronchiectasis, rhinitis, and/or otitis media, since they cause certain derangements in ciliary cleaning activities. This disease is usually inherited by autosomal recessive trait, but may also be found to be acquired or transient in rare cases after heavy exposure to pollutants, cigarette smoking or severe infection. We performed this study in children with frequently recurrent or persistent respiratory diseases to clarify if the ciliary abnormalities are preceding factors. Methods : We enrolled 17 children with suspected respiratory ciliary abnormalities. The indications for evaluation of ciliary ultrastructure were recurrent or persistent respiratory infections. Children with immunologic abnormalities were excluded. From August 2000 to July 2003, we performed a biopsy on nasal mucosa and examined the structure of ciliary status by using an electron microscope. Results : Of the subjects, there were seven males and 10 females, aged 2 to 10 years. Out of the 17 subjects, 12 cases of chronic paranasal sinusitis, nine chronic coughs, nine frequent upper respiratory infections, seven cases of recurrent otitis media, four cases of recurrent pneumonia, and four cases of bronchial asthma were found. Out of the 17 cases on which histologic examinations were conducted, four cases showed pathologic findings, including one case of inner dynein arm defect, one of microtubular transposition, one of supernumerous tubules, and one singlet, respectively. Conclusion : It is essential for differential diagnosis and effective treatment to identify the abnormalities of ultrastructure of nasal cilia in children with symptoms of frequently recurrent or persistent respiratory diseases, if immunodeficiency or respiratory allergy could be excluded.

Breeding of the Scab-Resistant Pear Cultivar 'Greensis' (배 검은별무늬병 저항성 품종 '그린시스' 육성)

  • Kim, Yoon-Kyeong;Kang, Sam-Seok;Won, Kyung-Ho;Shin, Il-Sheob;Cho, Kwang-Sik;Ma, Kyeong-Bok;Kim, Myung-Su;Choi, Jang-Jeon;Choi, Jin-Ho
    • Horticultural Science & Technology
    • /
    • v.34 no.4
    • /
    • pp.655-661
    • /
    • 2016
  • To develop scab-resistant pear (Pyrus spp.) varieties with fruits that are as crisp and juicy as Asian pears, a cross was made between 'Whangkeumbae' and 'Bartlett' varieties (P. pyrifolia ${\times}$ P. communis) at the Pear Research Institute of the National Institute of Horticultural & Herbal Science, Rural Development Administration, in 1994. Among the 285 seedlings, 'Greensis' was first selected in 2006 for its good eating quality and named in 2012 after regional adaptation tests in nine regions and ten experimental plots from 2007 to 2012. The tree showed a vigorous growth habit and semi-spreading characteristics, like 'Whangkeumbae'. The optimum fruit harvest date was also around Sept. 26 and fruit was round in shape and green in skin color at maturity. Average fruit weight was 470g, and the soluble solids content was $12.4^{\circ}Brix$. The flesh was very crisp and juicy, and had good eating quality. Its' leaf size was similar with 'Bartlett' and smaller than 'Whangkeumbae'. The average of full bloom date of 'Greensis' was determined as Apr. 26, which was six days later than 'Whangkeumbae' and similar with 'Bartlett'. S genotypes of 'Greensis' were identified as $S_4S_e$ by S-allele PCR product sequencing analysis. It seems that the $S_4$ allele was inherited from 'Whangkeumbae' and the Se allele from 'Bartlett'. 'Greensis' displayed strong resistance to scab disease caused by Venturia nashicola, similar to European pear cultivars like 'Beurre Hardy' and, 'Conference'. 'Greensis' was also highly resistant to black leaf spot (Alternaria kikuchiana) in the field

A Family Screening of Patients with Vesicoureteral Reflux (방광 요관 역류 환아의 가족 선별 검사에 관한 연구)

  • Kang Hee;Kim Hyung Jin;Yoo Kee Hwan;Hong Young Sook;Lee Joo Won;Kim Soon Kyum
    • Childhood Kidney Diseases
    • /
    • v.5 no.1
    • /
    • pp.36-42
    • /
    • 2001
  • Purpose : Vesicoureteral reflux is the most commonly inherited disease detected in children with urinary tract infection. The incidence of vesicoureteral reflux among siblings of children with known vesicoureteral reflux is 8$\%$ to 45$\%$ according to different authors. Family screening of a patient with vesicoureteral reflux is important in order to prevent reflux nephropathy. The purpose of this study is to determine the incidence of vesicoureteral reflux in asymptomatic family of children with vesicoureteral reflux and the factors which influence the family history. Methods : The study group consisted of 27 families of patients with vesicoureteral reflux. The total number in the group were 79 persons. BUN, Cr, urineanalysis, voidingcystourethrography(VCUG) and 99mTc -dimercaptosuccinic acid(DMSA) renal scan were performed oil tile siblings. As for tile parents the same tests were performed except the VCUG. Results : The abnormality was detected in 7 of 27 families(25.9$\%$). Vesicoureteral reflux was detected in 5 of 20 siblings and renal scar ns detected in 3 of 32 parents. In children with vesicoureteral reflux, renal scar was detected in 24 of 32 children. Between the group with the abnormality in its family(Group A) and the group without the abnormality in its family(Group B), There was no difference of creatinine clearance between two groups. More renal scars were detected in group A according to the DMSA(A:100$\%$, B:75$\%$. t-test P<0.05). There was no difference of grade of VCUG between two groups. There was no difference between one site and both sites in two groups. In tile case of tile siblings with vesicoureteral reflux, there was high incidence of renal scar in a patient with vesicoureteral reflux according to the DMSA. Conclusion : It is important to screen vesicoureteral reflux and renal scar in case of urinary tract infection to prevent reflux nephropathy. This study implies that it is necessary to screen the family of a patient with vesicoureteral reflux especially with renal scar. (J, Korean Soc Pediatr Nephrol 5 : 36- 42, 2001)

  • PDF

Lead Pollution and Lead Poisoning among Children in China

  • Zheng, Yuxin
    • Proceedings of the Korean Environmental Health Society Conference
    • /
    • 2003.06a
    • /
    • pp.24-25
    • /
    • 2003
  • Lead is ubiquitous in the human environment as a result of industrialization. China's rapid industrialization and traffic growth have increased the potential for lead emissions. Lead poisoning in children is one of the most common public health problems today, and it is entirely preventable. Children are more vulnerable to lead pollution and lead in their bodies can affect their nervous, circulatory, and digestive systems. Children are exposed to lead from different sources (such as paint, gasoline, and solder) and through different pathways (such as air, food, water, dust, and soil). Although all children are exposed to some lead from food, air, dust, and soil, some children are exposed to high dose sources of lead. Significant sources of lead for China's children include industrial emissions (often close to housing and schools), leaded gasoline, and occupational exposure that occurs when parents wear lead-contaminated clothing home from work, burning of coal for home heat and cooking, contaminated food, and some traditional medicines. To assess the blood lead level in children in China, a large-scale study was conducted in 19 cities among 9 provinces during 1997 to 2000. There were 6502 children, aged 3-5 years, were recruited in the study The result indicates that the mean blood lead level was 8.83ug/dl 3-5 year old living in city area. The mean blood lead level of boys was higher than that of girls (9.1l ug/dl vs 8.73ug/dl). Almost 30 percent childrens blood lead level exceeded 10ug/dl. The average blood lead level was higher than that of in 1985 (8.83ug/dl vs 8.lug/dl). An epidemiological study was carried on the children living around the cottage industries recycling the lead from battery. Nine hundreds fifty nine children, aged 5-12 years, living in lead polluted villages where the lead smelters located near the residential area and 207 control children live in unpolluted area were recruited in the study. The lead levels in air, soil, drinking water and crops were measured. The blood lead and ZnPP level were tested for all subjects. The results show that the local environment was polluted. The lead levels both in the air and crops were much higher than that of in control area. In the polluted area, the average blood level was 49.6ug/dl (rang 19.5-89.3ug/dl). Whereas, in the unpolluted area, the average blood level was 12.4ug/dl (rang 4.6-24.8ug/dl). This study indicates that in some countryside area, some cottage industries induce seriously lead pollution and cause children health problem. For the introducing of unleaded gasoline in some large cities, such as Beijing and Shanghai, the blood lead level showed a declined trend since 1997. By 2000, the use of leaded gasoline in motor vehicles has been prohibited in China. The most recent data available show that levels of lead in blood among children in Shanghai decreased from 8.3ug/dl in 1997 to 7.6ug/dl in 1999. The prevalence rate of children lead poisoning (blood lead >10ug/dl) was also decreased from 37.8% to 24.8%. In children living in downtown area, the blood lead level reduced dramatically. To explore the relationship between gene polymorphisms and individual susceptibility of lead poisoning, a molecular epidemiological study was conducted among children living in lead polluted environment. The result showed that the subjects with ALAD2 allele has higher ZPP level, and the subjects with VDR B allele has larger head circumference than only with b allele. In the present study, we demonstrated that ALAD genotypes modify lead effects on heme metabolism and VDR gene variants influence the skull development in highly exposed children. The polymorphism of ALAD and VDR genes might be the molecular inherited factor modifying the susceptibility of lead poisoning. Recently, Chinese government pays more attention to lead pollution and lead poisoning in children problem. The leaded gasoline was prohibited used in motor vehicles since 2000. The government has decided to have a clampdown on the high-polluted lead smelters for recycling the lead from battery in countryside. It is hopeful that the risk of lead poisoning in children will be decreased in the further

  • PDF

Review of Anti-Leukemia Effects from Medicinal Plants (항 백혈병작용에 관련된 천연물의 자료조사)

  • Pae Hyun Ock;Lim Chang Kyung;Jang Seon Il;Han Dong Min;An Won Gun;Yoon Yoo Sik;Chon Byung Hun;Kim Won Sin;Yun Young Gab
    • Journal of Physiology & Pathology in Korean Medicine
    • /
    • v.17 no.3
    • /
    • pp.605-610
    • /
    • 2003
  • According to the Leukemia and Lymphoma Society, leukemia is a malignant disease (cancer) that originates in a cell in the marrow. It is characterized by the uncontrolled growth of developing marrow cells. There are two major classifications of leukemia: myelogenous or lymphocytic, which can each be acute or chronic. The terms myelogenous or lymphocytic denote the cell type involved. Thus, four major types of leukemia are: acute or chronic myelogenous leukemia and acute or chronic lymphocytic leukemia. Leukemia, lymphoma and myeloma are considered to be related cancers because they involve the uncontrolled growth of cells with similar functions and origins. The diseases result from an acquired (not inherited) genetic injury to the DNA of a single cell, which becomes abnormal (malignant) and multiplies continuously. In the United States, about 2,000 children and 27,000 adults are diagnosed each year with leukemia. Treatment for cancer may include one or more of the following: chemotherapy, radiation therapy, biological therapy, surgery and bone marrow transplantation. The most effective treatment for leukemia is chemotherapy, which may involve one or a combination of anticancer drugs that destroy cancer cells. Specific types of leukemia are sometimes treated with radiation therapy or biological therapy. Common side effects of most chemotherapy drugs include hair loss, nausea and vomiting, decreased blood counts and infections. Each type of leukemia is sensitive to different combinations of chemotherapy. Medications and length of treatment vary from person to person. Treatment time is usually from one to two years. During this time, your care is managed on an outpatient basis at M. D. Anderson Cancer Center or through your local doctor. Once your protocol is determined, you will receive more specific information about the drug(s) that Will be used to treat your leukemia. There are many factors that will determine the course of treatment, including age, general health, the specific type of leukemia, and also whether there has been previous treatment. there is considerable interest among basic and clinical researchers in novel drugs with activity against leukemia. the vast history of experience of traditional oriental medicine with medicinal plants may facilitate the identification of novel anti leukemic compounds. In the present investigation, we studied 31 kinds of anti leukemic medicinal plants, which its pharmacological action was already reported through many experimental articles and oriental medical book: 『pharmacological action and application of anticancer traditional chinese medicine』 In summary: Used leukemia cellline are HL60, HL-60, Jurkat, Molt-4 of human, and P388, L-1210, L615, L-210, EL-4 of mouse. 31 kinds of anti leukemic medicinal plants are Panax ginseng C.A Mey; Polygonum cuspidatum Sieb. et Zucc; Daphne genkwa Sieb. et Zucc; Aloe ferox Mill; Phorboc diester; Tripterygium wilfordii Hook .f.; Lycoris radiata (L Her)Herb; Atractylodes macrocephala Koidz; Lilium brownii F.E. Brown Var; Paeonia suffruticosa Andr.; Angelica sinensis (Oliv.) Diels; Asparagus cochinensis (Lour. )Merr; Isatis tinctoria L.; Leonurus heterophyllus Sweet; Phytolacca acinosa Roxb.; Trichosanthes kirilowii Maxim; Dioscorea opposita Thumb; Schisandra chinensis (Rurcz. )Baill.; Auium Sativum L; Isatis tinctoria, L; Ligustisum Chvanxiong Hort; Glycyrrhiza uralensis Fisch; Euphorbia Kansui Liou; Polygala tenuifolia Willd; Evodia rutaecarpa (Juss.) Benth; Chelidonium majus L; Rumax madaeo Mak; Sophora Subprostmousea Chunet T.ehen; Strychnos mux-vomical; Acanthopanax senticosus (Rupr.et Maxim.)Harms; Rubia cordifolia L. Anti leukemic compounds, which were isolated from medicinal plants are ginsenoside Ro, ginsenoside Rh2, Emodin, Yuanhuacine, Aleemodin, phorbocdiester, Triptolide, Homolycorine, Atractylol, Colchicnamile, Paeonol, Aspargus polysaccharide A.B.C.D, Indirubin, Leonunrine, Acinosohic acid, Trichosanthin, Ge 132, Schizandrin, allicin, Indirubin, cmdiumlactone chuanxiongol, 18A glycyrrhetic acid, Kansuiphorin A 13 oxyingenol Kansuiphorin B. These investigation suggest that it may be very useful for developing more effective anti leukemic new dregs from medicinal plants.

Clinical Aspects in Patients with Thyrotoxic Periodic Hypokalemic Paralysis (갑상선 중독성 주기성마비 환자의 임상적 고찰)

  • Narn, Sang-Yob;Kirn, Jae-Hong;Oh, Jung-Hyn;Park, Jin-Chul;Yoon, Hyun-Dae;Won, Kyu-Chang;Cho, Ihn-Ho;Sung, Cha-Kyung;Lee, Hyoung-Woo
    • Journal of Yeungnam Medical Science
    • /
    • v.16 no.2
    • /
    • pp.228-236
    • /
    • 1999
  • Background: Thyrotoxic periodic paralysis is an uncommon illness characterized by intermittent flaccid paralysis of skeletal muscle, usually accompanied by hypokalemia, in patient with hyperthyroidism. However, the pathophysiology of thyrotoxic periodic paralysis remains largely unexplained and controversial. This report describes the clinical and biochemical findings in 19 patients with thyrotoxic periodic paralysis who were examined at the Yeungnam University Medical Center(YUMC) during the past decade. Methods: The medical records of 997 YUMC patients, seen between 1986 and 1996, with diagnosis of hyperthyroidism were reviewed. Nineteen patients out of 997 hyperthyroidism patients were diagnosed, and examined by history, physical examination, serum electrolyte value, and thyroid function test during paralysis. On the basis of these results, comparisons were made on age, sex, precipitating factors, timing, affected limbs, prognosis, serum potassium and serum phosphate and thyroid hormone levels. Results: The prevalence of periodic paralysis in hyperthyroidism was 1.9 percent and the male to female prevalence ratio was 30:1 and in all patients, the development of perodic paralysis was correlated with hyperfunctional state of the thyroid gland. Eleven cases of periodic paralysis were associated with hypokalemia and their thyroid hormone levels were significantly more increased than those of the patients without hypokalemia. Interestingly, our study shows the recurrence of paralysis after treatment. Conclusion: Although the precise pathophysiology of the disease is as yet undefined and controversial, it occurs primarily in Asians with an overwhelming male preponderance and prevalence of 2 percent in hyperthyroidism. The interactive roles of thyroid hormone, Na-K pump, and genetically inherited defect in the cellular membrane potential of the skeletal muscle can be speculated. Further investigation will be needed to firmly establish the mechanism of thyrotoxic periodic paralysis.

  • PDF

Biochemical Characteristics for the Cofactor Free Mutant of Yeast Homocysteine Catalyzing Enzyme, Cystathionine ${\beta}$-Synthase (조효소를 함유하지 않는 효모의 Homocysteine 분해효소, Cystathionine ${\beta}$-Synthase의 생화학적 특성)

  • Jhee, Kwang-Hwan;Cho, Hyun-Nam;Yang, Seun-Ah;Lee, In-Seun
    • Microbiology and Biotechnology Letters
    • /
    • v.35 no.3
    • /
    • pp.196-202
    • /
    • 2007
  • Mutations in the cystathionine ${\beta}$-synthase (CBS) gene cause homocystinuria, the most frequent inherited disorder in sulfur metabolism. CBS is the unique enzyme using both heme and pyridoxal 5-phosphate (PLP) for activity. Among the reported 140 mutations, one of the most common disease-causing alterations in human CBS is G307S mutation. To investigate the pathogenic mechanism of G307S by spectroscopic methods, we engineered the full length and the truncated G247S mutation of yeast CBS that is corresponding mutation to human G307S. Yeast CBS does not contain heme and thus gives a merit to study the spectroscopic properties. The UV-visible spectra of the purified full length and the truncated G247S yeast CBSs showed the total absence of PLP in the protein. The absence of PLP in G247S mutation was also confirmed by the PLP-cyanide adduct formation experiment, which was conducted by the incubation of the purified enzyme with KCN. The adducts were detected using a circular dichroism (CD) and a spectrofluorimeter. Radio isotope activity assay of full length and truncated G247S proteins also gave no activity. Our yeast G247S mutation data suggested that G307S might make the distortion of the active site so that cofactor PLP and substrate can not fit inside the active site. Our yeast CBS study addressed the reason why the G307S mutation in human CBS makes the enzyme inactive that consequently leads to severe clinical phenotype.