Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation.
Assessing Gut Microbiota in an Infant with Congenital Propionic Acidemia before and after Probiotic Supplementation.
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评估益生菌补充前后先天性丙酸血症婴儿的肠道微生物群。
DOI：
10.3390/microorganisms9122599
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发表时间：
2021-12-16
期刊：
影响因子：
4.5
通讯作者：
Felis GE
中科院分区：
文献类型：
--
作者：
Bordugo A;Salvetti E;Rodella G;Piazza M;Dianin A;Amoruso A;Piacentini G;Pane M;Torriani S;Vitulo N;Felis GE
丙酸血症（Propionic Acidemia，PA）是一种罕见的遗传性代谢紊乱，由丙酰辅酶A羧化酶（propionyl-CoA carboxylase，CoA carboxylase）的酶促阻断引起的丙酸蓄积引起。由于相当数量的丙酸盐是由肠道细菌产生的，因此人们对通过每月使用甲硝唑进行抗生素治疗来减少丙酸盐产生菌的尝试产生了兴趣。在本研究中，我们调查了一名婴儿的肠道微生物群结构，该婴儿在出生后4天通过扩展新生儿筛查（NBS）诊断，并按照国际指南对该儿童进行了特殊的低蛋白饮食，特定药物和严格的生化监测。在生命的第一个月期间评估微生物群组成，并且已知与丙酸盐产生相关的脆弱拟杆菌的存在通过甲硝唑治疗有效地减少。经过五个抗生素治疗周期后，在4个月大时，婴儿每天补充三种已知不产丙酸的双歧杆菌菌株的混合物。补充剂增加了双歧杆菌的数量，其中短双歧杆菌是主要菌种;还鉴定了醋酸盐和甲酸盐生产者Ruminococcus gavus。与低覆盖率的全宏基因组测序相比，元条形码分析被证明可以捕获所有的微生物生物多样性，并且可以成为在罕见代谢疾病（如PA）的随访中实施快速且具有成本效益的监测方案的选定工具。获得的数据可能是建立定制微生物群改造治疗研究的可能起点，以改善受丙酸血症影响的人的生活质量。
Propionic Acidemia (PA) is a rare inherited metabolic disorder caused by the enzymatic block of propionyl-CoA carboxylase with the consequent accumulation of propionic acid, which is toxic for the brain and cardiac cells. Since a considerable amount of propionate is produced by intestinal bacteria, interest arose in the attempt to reduce propionate-producing bacteria through a monthly antibiotic treatment of metronidazole. In the present study, we investigated the gut microbiota structure of an infant diagnosed at 4 days of life through Expanded Newborn Screening (NBS) and treated the child following international guidelines with a special low-protein diet, specific medications and strict biochemical monitoring. Microbiota composition was assessed during the first month of life, and the presence of Bacteroides fragilis, known to be associated with propionate production, was effectively decreased by metronidazole treatment. After five antibiotic therapy cycles, at 4 months of age, the infant was supplemented with a daily mixture of three bifidobacterial strains, known not to be propionate producers. The supplementation increased the population of bifidobacteria, with Bifidobacterium breve as the dominating species; Ruminococcus gnavus, an acetate and formate producer, was also identified. Metabarcoding analysis, compared with low coverage whole metagenome sequencing, proved to capture all the microbial biodiversity and could be the elected tool for fast and cost-effective monitoring protocols to be implemented in the follow up of rare metabolic disorders such as PA. Data obtained could be a possible starting point to set up tailored microbiota modification treatment studies in the attempt to improve the quality of life of people affected by propionic acidemia.
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影响因子：
11.1
作者：
Jian C;Carpén N;Helve O;de Vos WM;Korpela K;Salonen A
通讯作者：
Salonen A
影响因子：
4.6
作者：
Mizutani T;Aboagye SY;Ishizaka A;Afum T;Mensah GI;Asante-Poku A;Asandem DA;Parbie PK;Abana CZ;Kushitor D;Bonney EY;Adachi M;Hori H;Ishikawa K;Matano T;Taniguchi K;Opare D;Arhin D;Asiedu-Bekoe F;Ampofo WK;Yeboah-Manu D;Koram KA;Anang AK;Kiyono H
通讯作者：
Kiyono H
影响因子：
4
作者：
Montanari C;Parolisi S;Borghi E;Putignani L;Bassanini G;Zuvadelli J;Bonfanti C;Tummolo A;Dionisi Vici C;Biasucci G;Burlina A;Carbone MT;Verduci E
通讯作者：
Verduci E
影响因子：
48
作者：
Callahan BJ;McMurdie PJ;Rosen MJ;Han AW;Johnson AJ;Holmes SP
通讯作者：
Holmes SP
影响因子：
2.6
作者：
Cao, Linyan;Chen, Huahai;Yin, Yeshi
通讯作者：
Yin, Yeshi