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1眼肌麻痹、视神经病和帕金森综合征家族中新的聚合酶γ突变

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世界核心医学期刊文摘(眼科学分册) 2005年第3期 7-8页

作者： Mancuso M. Filosto M. Oh s.J. dimauro s. 杨建刚 4-420 Coll. of Phys . and surgeons United states Dr NY 630 West 168th st New York

Background: Mutations in polymerase γcause progressive external ophthalmopleg ia and a variety of associated symptoms and signs, including neuropathy, ataxia, hypogonadism, hearing loss, muscle weakness, and psychiatric problems. Extrapyr amidal signs have been rarely described. Objective: To describe a family with a novel polymerase γ.mutation and autosomal dominant transmission of progressive external ophthalmoplegia, neuropathy, hypogonadism, and parkinsonism. Design: Ca se report. Patients: The proband, a 49 year old woman with incipient parkinson ism, and her 59 year old brother with overt parkinsonian features. Main Outcom e Measures: Mutation in the proband by sequencing the polymerase γgene and in a ffected relatives by restriction fragment length polymorphism analysis. Results: We found multiple mitochondrial DNA deletions in the proband’s muscle and a no vel missense mutation in the polymerase γgene (A2492G) in the proband and in he r affected siblings. Conclusion: Parkinsonism was a prominent clinical feature i n this family with autosomal dominant ophthalmoplegia, multiple mitochondrial DN A deletions, and a novel mutation in the polymerase γgene.

关键词：帕金森综合征聚合酶多聚酶转肽酶眼肌麻痹家族

具有MELAs和MERRF临床特征患者的一种新型线粒体DNA ND5突变

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世界核心医学期刊文摘（神经病学分册） 2005年第9期1卷 14-15页

作者： Naini A.B. Lu J. Kaufmann P. s. dimauro 黄卫东 4-420 Coll. of Phys. and surgeons 630 W 168th St New York NY 10032 United States Dr.

Background: The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAs) and various overlap syndromes. Objective: To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAs and myoclonus epilepsy with ragged-red fibers. Design: Case report. Patient: A 25-year-old man had recurrent strokes, seizures, and myoclonus. His mother also had multiple strokes. A muscle biopsy specimen showed no ragged-red fibers but several strongly succinate dehydrogenasereactive blood vessels. Results: Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutatio n (G13042A) in the ND5 gene. Conclusions: These data confirm that ND5 is a genet ic hot spot for overlap syndromes, including MELAs and strokelike and myoclonus epilepsy with ragged-red fibers.

关键词： MELAs DNA ND5 MERRF 线粒体脑肌病破碎红纤维卒中样发作肌肉活检肌阵挛性癫痫重叠综合征基因突变

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肝脑型线粒体DNA缺失综合征的新脱氧鸟苷激酶基因突变

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世界核心医学期刊文摘（神经病学分册） 2005年第9期1卷 18-18页

作者： Mancuso M. Ferraris s. Pancrudo J. s.dimauro 高中宝 Columbia University College of Physicians and surgeons 630 W 168th St New York NY 10032 United StatesDr.

Objective: To document novel homozygous mutations in the gene for deoxyguanosi ne kinase (DGK) in 3 children with mitochondrial DNA depletion. Design: Clinical features included liver failure, hypotonia, and nystagmus in 2 siblings, and li ver cirrhosis, optic dysplasia, nystagmus, and microcephaly in the third patient . We sequenced the whole coding region of the DGK gene. Results: We identified 2 novel homozygous mutations, G352A and C269T, that lead to truncated proteins. C onclusion: These data confirm that DGK mutations typically affect the liver and brain.

关键词：脱氧鸟苷基因突变脑型 DNA 眼球震颤小头畸形纯合子发育异常编码区

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一患眼肌麻痹、神经病变和帕金森综合征的家族中发现一种新的聚合酶γ突变

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世界核心医学期刊文摘（神经病学分册） 2005年第3期1卷 26-26页

作者： Mancuso M. Filosto M. Oh s.J. dimauro s. 王英鹏 4-420 Coll. of Phys. and surgeons 630 West 168th St New Yor k NY United States Dr.

Background: Mutations in polymerase γcause progressive external ophthalmopleg ia and a variety of associated symptoms and signs, including neuropathy, ataxia, hypogonadism, hearing loss, muscle weakness, and psychiatric problems. Extrapyr amidal signs have been rarely described. Objective: To describe a family with a novel polymerase γ.mutation and autosomal dominant transmission of progressive external ophthalmoplegia, neuropathy, hypogonadism, and parkinsonism. Design: Ca se report. Patients: The proband, a 49 year old woman with incipient parkinson ism, and her 59 year old brother with overt parkinsonian features. Main Outcom e Measures: Mutation in the proband by sequencing the polymerase γ.gene and in affected relatives by restriction fragment length polymorphism analysis. Results : We found multiple mitochondrial DNA deletions in the probands muscle and a n ovel missense mutation in the polymerase γ.gene (A2492G) in the proband and in her affected siblings. Conclusion: Parkinsonism was a prominent clinical feature in this family with autosomal dominant ophthalmoplegia, multiple mitochondrial DNA deletions, and a novel mutation in the polymerase γgene.

关键词：帕金森综合征眼肌麻痹聚合酶锥体外系体征先证者性腺功能减退早期帕金森基因突变共济失调 DNA

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他汀类药物相关性肌病的肌肉辅酶Q10水平

世界核心医学期刊文摘(神经病学分册) 2006年第4期 13-13页

作者： Lamperti C. Naini A.B. Lucchini V. s. dimauro 赵天智 4- 420 College of Physicians and surgeons 630 W 168th St New York NY 10032 United States.Dr

Background: statin drugs (3- hydroxy- 3- methylglutaryl coenzyme A reductase inhibitors) reduce the level of cholesterol by inhibiting the synthesis of mevalonate, an intermediary in the cholesterol biosynthetic pathway. Use of statin drugs has been associated with a variety of skeletal muscle-related complaints. Coenzyme Q10 (CoQ10), a component of the mitochondrial respiratory chain, is also synthesized from mevalonate, and decreased muscle CoQ10 concentration may have a role in the pathogenesis of statin drug-related myopathy. Objectives: To measure the CoQ10 concentration and respiratory chain enzyme activities in muscle biopsy specimens from 18 patients with statin drug-related myopathy and to look for evidence of apoptosis using the TUNEL (terminal deoxynucleotidyl transferase-mediated deoxyuridine triphosphate nick-end labeling) assay. Design: An open-labeled study of CoQ10 concentration in muscle from patients with increased serum creatine kinase concentrations while receiving standard statin drug therapy. setting: Neuromuscular centers at 2 academic tertiary care hospitals. Results: Muscle structure was essentially normal in 14 patients and showed evidence of mitochondrial dysfunction and nonspecific myopathic changes in 2 patients each. Muscle CoQ10 concentration was not statistically different between patients and control subjects, but it was more than 2 sDs below the normal mean in 3 patients and more than 1 sD below normal in 7 patients. There was no TUNEL positivity in any patients. Conclusion: These data suggest that statin drug-related myopathy is associated with a mild decrease in muscle CoQ10 concentration, which does not cause histochemical or biochemical evidence of mitochondrial myopathy or morphologic evidence of apoptosis in most patients.

关键词：肌病肌肉疾病他汀类药物辅酶相关性

Milk Production of sarda suckler Cows with Different Calving Period

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Journal of Agricultural science and Technology(A) 2020年第2期10卷 86-97页

作者： Marco Acciaro Corrado dimauro Valeria Giovanetti Giampaolo Epifani Carla Manca salvatore Contini Andrea Cabiddu Mauro Decandia Giovanni Molle AGRIs sardegna Olmedo 07040Italy Dipartimento di Agraria Universitàdi SassariVialeItalia 39Sassari 07100Italy

The study explored the relationship between the performance of calves and calving season in a Mediterranean rangeland-based beef livestock *** multiparous sarda cows,grazing on a natural pasture,with two distinct calving periods(group A,11 animals,calving date 15/10/2016±16(means±s.d.),and group W,nine animals,calving date 26/01/2017±11)were *** data,herbage quality,daily milk yield(DMY),total milk yield(TMY),body weight(BW)of cows and calf,body-weight daily gain(ADG)of calves,body condition score(BCs)and calving interval(CI)of cows were assessed.A mixed-effects model was used to DMY and ADG data while TMY,BCs,weaning weight(WW)and CI data were analyzed by a linear *** most determining factors in the DMY and ADG were detected by means of partial least square regression(PLsR)*** W showed higher DMY(6.5±0.3 kg/d vs.4.5±0.3 kg/d,ps.830±60 kg,p=0.002)than Group A,but this did not result in a greater ADG of calves(Group A:0.83±0.04 kg/d/animal and Group W:0.99±0.09 kg/d/animal,p-value not significant)or WW when adjusted for their age(Group A:216±14 kg/animal and Group W:250±22 kg/animal,p-value not significant).In contrast,the WW actually measured were higher in Group A than in Group W(257±7 kg vs.175±8 kg,ps experienced a minor CI than Group A cows(288±13 d vs.320±8 d,p=0.04).The results of PLsR suggest that the factors with utmost importance for both DMY and ADG were the age and the body-weight of cows,highlighting the excellent maternal ability of sarda breed and its good adaptation to environment.

关键词： sarda cow suckler-cow system weigh-suckle-weigh method partial least square regression