亚甲基四氢叶酸还原酶缺乏症致脑积水患儿2例临床及MTHFR基因变异分析

目的 探讨以婴儿期脑积水为突出表现的亚甲基四氢叶酸还原酶缺乏症患儿的临床特点、治疗及预后。方法 2例患儿因脑积水于北京大学第一医院儿科就诊，经血清总同型半胱氨酸、血液氨基酸及酰基肉碱谱、尿有机酸和基因分析确诊，对患儿的临床特点、代谢异常、MTHFR基因变异、诊断、治疗及预后等进行回顾性研究。结果 2例患儿为男童，分别于2月龄及4月龄起病，以脑积水及癫痫发作为主要表现，血清总同型半胱氨酸显著增高，血甲硫氨酸降低或处于正常低值，尿有机酸正常，头颅影像检查发现严重脑积水。两患儿服用甜菜碱、亚叶酸钙、钴胺素等治疗后血清总同型半胱氨酸下降，侧脑室腹腔分流手术后颅压改善，但智力运动发育明显迟缓，仍有癫痫发作。两患儿MTHFR基因均存在复合杂合变异，确诊为亚甲基四氢叶酸还原酶缺乏症所致同型半胱氨酸血症2型。4种变异中1种为已知致病变异，3种为未报道的新变异。结论 亚甲基四氢叶酸还原酶缺乏症患儿可于婴儿早期发生脑积水及癫痫等严重神经系统疾病，血清总同型半胱氨酸及基因检测是早期诊断的关键。     

早发型亚甲基四氢叶酸还原酶缺陷症 1 例临床及基因分析

目的探究MTHFR基因突变引起的亚甲基四氢叶酸还原酶缺陷患儿的临床特点、治疗及预后。方法回顾分析1例MTHFR缺陷导致癫痫、脑积水患儿的临床资料和MTHFR基因检测结果,并复习相关文献。结果女性患儿生后第10天出现抽搐、呼吸不规律、喂养困难、肌张力低下,血同型半胱氨酸水平明显升高(147.9μmol/L);基因测序示MTHFR基因存在复合杂合突变(c.1319_c.1320 insTT,c.1262 GA),其中c.1319_c.1320 insTT以往未见报道。予甜菜碱、亚叶酸钙、维生素B_6、维生素B_(12)治疗2周后,患儿血清总同型半胱氨酸水平下降,临床症状好转,但随后一个月内出现明显脑积水,精神运动发育明显迟缓。结论早发型亚甲基四氢叶酸还原酶缺陷患儿可在生后早期即有表现,血同型半胱氨酸测定及基因检测有助于早期诊断和干预。     

经典型同型半胱氨酸尿症13例临床及CBS基因分析

目的分析经典型同型半胱氨酸尿症患儿的临床特点和CBS基因变异情况, 探讨个体化治疗方法及预防。方法回顾性分析2013年11月至2021年6月就诊于郑州大学附属儿童医院及北京大学第一医院儿科的13例经典型同型半胱氨酸尿症患儿的一般情况、临床表现、实验室检查、头颅影像学、CBS基因变异特点、诊断及治疗等资料。结果 13例患儿中男6例, 女7例, 确诊年龄为10日龄至14岁。3例为新生儿筛查检出, 无症状时开始治疗, 余10例于1～6岁发病, 5～14岁时确诊, 主要表现为马凡综合征样体型、晶状体脱位和(或)近视、发育落后、骨质疏松及心脑血管疾病。4例脑磁共振成像示不对称梗死灶, 1例示髓鞘形成低下。13例患儿血清蛋氨酸、血清总同型半胱氨酸及尿液总同型半胱氨酸均增高, 尿液甲基丙二酸正常, 符合经典型同型半胱氨酸尿症。13例患儿CBS基因共检出18种变异, 其中10种为新变异、8种为已知变异。仅1例为维生素B6部分反应型, 12例为维生素B6无反应型, 均以低蛋氨酸饮食及甜菜碱治疗为主, 3例疗效不良患儿分别于3、8、8岁进行了肝移植治疗, 术后1周内血液蛋氨酸及同型半胱氨酸恢复正常。1例患...     

青春期发病的亚甲基四氢叶酸还原酶缺乏症9例分析

目的探讨青春期发病的亚甲基四氢叶酸还原酶(MTHFR)缺乏症的诊断和治疗策略。方法回顾性病例分析。以2016年1月至2022年12月于北京大学第一医院确诊并随访1年以上的9例青春期发病的MTHFR缺乏症患儿为研究对象, 总结患儿的临床表现、生化代谢特点、头颅影像学异常、MTHFR基因变异、诊断、治疗及转归。结果 9例患儿来自8个家庭, 男8例、女1例, 发病年龄8.0～17.0岁, 确诊年龄9.0～17.5岁。其中2例为同胞兄弟, 兄长17.0岁时出现步态异常, 弟弟15.0岁时诊断并开始治疗, 截至18.0岁尚无症状。8例有症状患儿的主要表现为进行性运动障碍, 下肢痉挛性瘫痪, 伴或不伴智力倒退、认知障碍及行为异常。9例患儿共检出15种MTHFR基因变异, 其中8种为新变异。5例患儿存在头颅影像学异常。所有患儿血清总同型半胱氨酸中重度升高(65～221 μmol/L), 予甜菜碱、亚叶酸钙治疗后明显下降(20～70 μmol/L), 精神行为及认知问题均显著好转, 8例患儿遗留下肢运动障碍。结论晚发型MTHFR缺乏症可在青春期发病, 临床缺乏特异性, 易被延误诊断, 血清总同型半胱氨...     

血浆总同型半胱氨酸测定在智力低下等神经精神异常病因调查中的应用

目的调查原因不明的神经精神异常及甲基丙二酸尿症患儿中同型半胱氨酸血症的发生情况,探讨荧光偏振免疫测定法进行血浆或血清总同型半胱氨酸测定的应用价值。方法对2000年1月至2007年12月因原因不明的智力低下、运动障碍、癫疒间、头痛等多种神经系统异常患儿799例,甲基丙二酸尿症126例患儿,采用荧光偏振免疫测定法检测血液总同型半胱氨酸,气相色谱质谱联用分析测定尿液有机酸,液相串联质谱法进行血液氨基酸、酯酰肉碱谱分析。结果925例高危患儿中共发现同型半胱氨酸血症128例（13.84%）。799例原因不明的神经系统疾病患儿中同型半胱氨酸血症27例（3.38%）,血液丙酰肉碱及游离氨基酸浓度正常。126例甲基丙二酸尿症患儿中合并同型半胱氨酸血症101例（80.16%）,血液丙酰肉碱浓度增高。结论甲基丙二酸尿症合并同型半胱氨酸血症是甲基丙二酸尿症的主要临床表型,为鉴别诊断、正确治疗,应及早进行血液总同型半胱氨酸测定。应用荧光偏振免疫测定法检测血清/血浆总同型半胱氨酸,是同型半胱氨酸血症高危筛查的可靠方法。     

甲基丙二酸尿症合并同型半胱氨酸血症57例临床分析

目的对57例甲基丙二酸尿症合并同型半胱氨酸血症患者进行回顾性研究。方法1996～2006年就诊的96例甲基丙二酸尿症患者中57例（59.4％）合并同型半胱氨酸血症,来自中国大陆16个省市,其中男32例,女25例,通过尿液、血液生化分析诊断,尿液有机酸测定采用GCMS分析技术,血清、尿液总同型半胱氨酸检测采用荧光偏振免疫测定法。结果57例患者尿中甲基丙二酸均显著增高,血清总同型半胱氨酸81.5～226.5μmol／L（正常对照4.5～12.4μmol／L）,尿液总同型半胱氨酸79.1～414.5μmol／L（正常对照1.0～20.0μmol／L）。其中13例（22.8％）于新生儿期发病,临床表现类似缺血缺氧性脑病;14例（24.6％）于1个月-1岁内发病,以神经系统损害为主要表现;9例（15.8％）于1岁～学龄前发病,以智力运动倒退为主要表现;18例（31.6％）于6～15岁发病,其中7例合并肝、肾、周围神经等多脏器损害。3例（5.3％）分别于16、24、34岁出现进行性智力运动倒退等异常。57例患者中11例（19.3％）死亡。46例（80.7％）接受维生素B12、叶酸、左旋肉碱、甜菜碱补充治疗,逐渐好转,11例（19.3％）完全康复。结论甲基丙二酸尿症合并同型半胱氨酸血症是中国人甲基丙二酸尿症的常见类型,患者个体差异大,可于新生儿期至成年各个时期发病,临床诊断困难。对于甲基丙二酸尿症患者应及早进行血浆、尿液总同型半胱氨酸测定,鉴别诊断,合理治疗。     

以脑积水起病的甲基丙二酸尿症合并同型半胱氨酸血症1例报道

甲基丙二酸尿症合并同型半胱氨酸血症极少以脑积水起病。本文报道1例以脑积水起病的该病病例,并进行文献复习,探讨该类有机酸代谢病与脑积水的关系。该患儿以抽搐、脑积水起病,存在大细胞性贫血,发育评估落后,视听功能损伤,脑电图高峰失律,头颅磁共振及超声证实脑积水。血同型半胱氨酸升高,为143.06μmol/L,尿代谢筛查甲基丙二酸浓度为正常值的1483倍,基因检测确诊甲基丙二酸尿症合并同型半胱氨酸血症,为位于1p34.1的c.609G>A纯合突变,属于CblC型维生素B12合成酶缺陷。确诊后加用静脉维生素B12、口服叶酸、甜菜碱后,患儿抽搐缓解,脑室回缩,发育较前进步。因此,对于没有明确病因以脑积水作为主诉就诊的患儿,应注意排查代谢性疾病。     

新生儿窒息血清同型半胱氨酸水平的临床研究

同型半胱氨酸（HCY）是含巯基氨基酸，从细胞内蛋氨酸代谢中起源，为蛋氨酸代谢的中间产物。近期研究表明，高同型半胱氨酸血症是冠状动脉疾病、脑血管疾病、外周血管疾病独立的危险因素，也是有效的预测因素。有研究显示，同型半胱氨酸水平的升高及叶酸、维生素B2、维生素B6、维生素B12等缺乏均可增加早产的危险，有些学者认为，高同型半胱氨酸血症与母孕期并发症及不良生产有关。本研究目的为研究与探讨新生儿缺氧性损伤与血清HCY升高之间的相关性。     

甲基丙二酸尿症合并同型半胱氨酸血症致多系统损害

目的 甲基丙二酸尿症合并同型半胱氨酸血症是甲基丙二酸尿症中的特殊类型,对5例患儿进行回顾性分析,研究本症的临床表现、生化特点、诊断与治疗方法。方法 应用气相色谱-质谱联用分析法（gas chromatography-mass spectrometry,GC-MS）进行尿有机酸分析,采用荧光偏振免疫测定法检测血浆同型半胱氨酸。确诊后给予钴胺素、左旋肉碱、甜菜碱等药物治疗,予以长期随访。结果 5例患儿（男2例,女3例）起病年龄3个月～13岁。4例表现为进行性智力运动障碍伴蛋白尿、血尿,1例因肌肉酸痛就诊,伴抽搐2例,伴周围神经损害2例,肝功异常2例。5例患儿尿甲基丙二酸为29．4～805．9mg／g肌酐（正常对照为0．2～3．6mg／g肌酐）,血浆中同型半胱氨酸42．5～215．22μmol／L（正常对照5～15μmol／L）,均明显增高,血浆游离肉碱浓度下降。经维生素B12左旋肉碱治疗后,患儿尿甲基丙二酸浓度明显下降,经甜菜碱治疗后血浆同型半胱氨酸逐渐降低。结论 甲基丙二酸尿症并同型半胱氨酸血症可导致多系统损害,临床表现多样;早期诊断、早期治疗是改善预后的关键;对不明原因的脑病、周围神经病、肾损害等多脏器损害患者,应尽早进行尿有机酸分析等特殊检查,对于甲基丙二酸尿症患者应进行血浆同型半胱氨酸测定。     

CBS基因突变致经典型高同型半胱氨酸尿症1例并文献复习

CBS基因缺陷引起的经典型高同型半胱氨酸尿症主要累及心血管系统、神经系统、骨骼及眼部等，确诊需依靠基因检测。文章回顾性分析1例经典型高同型半胱氨酸尿症所致多发性血栓形成患儿的临床资料并复习相关文献，提示对于不明原因的儿童颅脑静脉血栓形成，需高度警惕CBS基因突变的可能，尽早完善基因检查并尽早规范治疗。对于维生素B6无反应的患儿，在严重并发症出现之前，可尽早行肝移植根治。     

Homocysteine,vitamin B<Subscript>12</Subscript> and folate status in pediatric acute lymphoblastic leukemia

Objective  The cause of majority of acute leukemias is unknown, but likely to involve interaction of environment, hematopoitic development and weak susceptibility loci within an individual’s genetic constitution. The present study evaluates the association between plasma levels of homocysteine, folate and vitamin B₁₂ and acute lymphoblastic leukemia. Methods  Plasma levels of homocysteine, folate and vitamin B₁₂ were compared between cases of acute lymphoblastic leukemia and age and sex matched normal controls. Homocysteine levels were measured by solid immunoassay, while folate and vitamin B₁₂ levels were determined by radioassay. Results  Folate levels were significantly among cases as compared to control group (8.56 ± 4.35) vs (14.04 ± 2.62) ng/ml, P<0.001). Although individually vitamin B₁₂ and homocysteine were not significant different between cases and controls, the combined effect of all three parameters was significantly different (P<0.001), with 83.3% of correct classification of cases and controls was obtained by discriminate function analysis. Conclusion  The data provide evidence for the role of folate, vitamin B₁₂ and homocysteine levels in acute lymphoblastic leukemia, suggesting that gene-environment interaction may be an important factor in the development of acute lymphoblastic leukemia.     

Methylenetetrahydrofolate Reductase TT Genotype as a Predictor of Cardiovascular Risk in Hypertensive Adolescents

Methylenetetrahydrofolate reductase (MTHFR) is associated with homocysteine level. In deficit of MTHFR, cardiovascular risk is increased with hyperhomocysteinemia and hypomethionemia. Mutation of the MTHFR gene is associated with the risk for premature cardiovascular diseases. However, the association between MTHFR mutation and cardiovascular risk is still controversial. The purposes of this study were to determine whether MTHFR genotype is associated with cardiovascular risks in hypertensive adolescents and to investigate the association between MTHFR genotype and carotid intima-media thickness (IMT). Forty-three hypertensive adolescents were included in this study. Serum lipid levels, insulin, vitamin B₁₂, folate, renin, aldosterone, angiotensin converting enzyme, and homocysteine levels were evaluated. The carotid IMT and diameter were estimated by ultrasound. Brachial–ankle pulse wave velocity was also measured. Polymerase chain reaction was conducted to amplify genomic DNA fragment containing C677T position of the MTHFR gene. The height, weight, body mass index, obesity index, arm circumference, fat mass, and fat distribution were significantly greater in patients with C677T mutation. The C677T mutation group showed significantly greater carotid IMT, higher homocysteine, and lower folic acid levels than the normal genotype group. Interpretation of MTHFR genotype might be useful in predicting the development of premature coronary artery disease in hypertensive adolescents.     

Serum and red cell folates,and serum vitamin B12 in protein calorie malnutrition

In 22 cases of kwashiorkor, 19 cases of marasmus, and 16 normal controls, red cell folate, serum folate, and serum vitamin B₁₂ were estimated, and the bone marrow and peripheral blood examined. Erythrocyte folate deficiency was shown in 9 cases of kwashiorkor and 7 cases of marasmus. Serum folate deficiency was present in 14 cases of kwashiorkor and 7 cases of marasmus. Megaloblastosis was found in 45% of cases of kwashiorkor and 37% of cases of marasmus. Megaloblastosis and macrocytosis correlated more with erythrocyte than with serum folate deficiency. Serum vitamin B₁₂ levels in children with kwashiorkor or marasmus did not differ from those of normal controls. The role of folate deficiency in the pathogenesis of megaloblastosis in protein calorie malnutrition was confirmed.     

Vitamin B12 deficiency with intrinsic factor antibodies in an infant with poor growth and developmental delay

Vitamin B₁₂ deficiency is very rare in infants and may lead to serious hematological and neurodevelopmental abnormalities. The present article describes a case involving a seven-month-old boy with severe vitamin B₁₂ deficiency, likely caused by juvenile pernicious anemia, an entity rarely described. The child presented with feeding intolerance, poor growth and developmental delay. He was noted to have macrocytic anemia, a markedly low serum vitamin B₁₂ level, and elevated homocysteine and methylmalonic acid levels. Antibodies to intrinsic factor were positive. The mother was healthy, with normal vitamin B₁₂ status. Therapy with vitamin B₁₂ supplements led to excellent recovery of symptoms. Vitamin B₁₂ deficiency should be considered in children presenting with failure to thrive, especially when compounded with neurological symptoms. Early diagnosis and adequate treatment is essential to avoid serious complications.     

Prevalence of Vitamin B<Subscript>12</Subscript> and Folate Deficiency in School Children Residing at High Altitude Regions in India

Objective

To assess the prevalence of vitamin B₁₂ and folate deficiencies among children residing at high altitude regions of Himachal Pradesh, India.

Methods

A total of 215 school children in the age group of 6–18 y were included. Biochemical estimation of serum vitamin B₁₂ and folate levels was undertaken using chemiluminescence immunoassay method. The consumption pattern of foods high in dietary vitamin B₁₂ and folate was recorded using Food Frequency Questionnaire.

Results

The median levels (interquartile range) of serum vitamin B₁₂ and folate were 326 (259–395) pg/ml and 7.7 (6–10) ng/ml respectively. The prevalence of vitamin B₁₂ and folate deficiency amongst school age children was found as 7.4% and 1.5% respectively.

Conclusions

A low prevalence of vitamin B₁₂ and folate deficiencies was found amongst children aged 6–18 y living at high altitude regions in India. This is possibly due to high frequency of consumption of foods rich in vitamin B₁₂ and folate.

     

Methylenetetrahydrofolate reductase C677T polymorphism in patients with Henoch‐Schönlein purpura

Aim: Associations between several vascular diseases such as Kawasaki disease, venous and arterial thromboembolism, cardiovascular disease, diabetic nephropathy, focal segmental glomerulosclerosis and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism have been reported. This is a clinical study designed to investigate the possible effects of MTHFR C677T polymorphism on the development of Henoch‐Schönlein purpura (HSP). Methods: Forty‐one patients with HSP (25 male/16 female) with a mean age of 7.8 ± 2.9 years were included in the study. The control group consisted of 50 healthy children. MTHFR genotypes were determined by polymerase chain reaction and by Hindf I restriction enzyme analysis and subsequent 3% agarose gel electrophoresis techniques. Results: No significant differences were observed in the distribution of MTHFR genotypes or allele frequencies in the HSP cases versus controls. Plasma homocysteine levels and vitamin B₁₂ levels were almost comparable in the HSP patients and control group without a significant difference. Folic acid levels were within normal limits in the HSP cases and the control group, HSP patients' levels being significantly higher than the control group. No significant relationship was present with the MTHFR genotype and plasma homocysteine, vitamin B₁₂ and folic acid levels in HSP patients. Conclusion: No association with MTHFR gene polymorphism and homocysteine plasma levels could be found in patients with HSP. The results of this study indicate that other mechanisms should be operative in the development of HSP.     

Homocysteine,folate, vitamin B12 and B6 in mothers of children with neural tube defects in Xinjiang,China

Aim: To investigate the maternal homocysteine (Hcy), folate, vitamin B₁₂ and B₆, and their relations to neural tube defects (NTDs). Methods: Thirty mothers of NTDs offspring and another 60 mothers of normal children were enrolled as the patient and control groups from Xinjiang, China, from January 2008 to May 2011. The plasma levels of Hcy, folate, vitamin B₁₂ and B₆ were measured and compared between the two groups. Results: The morbidity of NTDs was 2.44% in Xinjiang. The Hcy was significantly higher in patient group than in control group (15.1 ± 7.8 vs. 8.5 ± 4.0 μmol/L, p < 0.001). The folate in patient group (9.7 ± 8.1 μg/L) was lower than in control group (15.0 ± 8.1 μg/L, p < 0.001). The vitamin B₁₂ was 181.3 ± 107.7 and 394.3 ± 386.3 ng/L in patient and control groups, respectively, with a significant difference (p < 0.001). The abnormal frequency of Hcy and vitamin B₁₂ was statistically different in two groups. The difference of vitamin B₆ between the patients and controls was marginal (48.7 ± 16.5 vs. 42.0 ± 10.5 mg/L, p = 0.051). Moreover, folate and vitamin B₁₂ levels were negatively correlated with Hcy while vitamin B₆ was positively correlated with Hcy. Positive correlation was observed between folate and vitamin B₁₂ levels. Conclusion: Our data confirm that higher Hcy, lower folate and vitamin B₁₂ are risk factors for NTDs. Besides folate, vitamin B₁₂ should be supplied to decrease NTDs occurrence. Further study is required to investigate the levels and accurate role of vitamin B₆.     

Anti-Epileptic drug treatment in children: Hyperhomocysteinaemia, B-Vitamins and the 677C→T Mutation of the Methylenetetrahydrofolate Reductase Gene

The aim of the study was to observe the influence of carbamazepine and valproic acid on plasma total homocysteine and B-vitamin status and the gene-drug interaction with the 677C-->T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. Plasma total homocysteine concentrations were determined in 136 epileptic children taking anti-epileptic drugs as monotherapy. Nutritional (folate, B12 and B6 vitamins) and genetic (MTHFR 677 C-->T) determinants of plasma homocysteine were studied in a random sample of 59 of the 136 epileptic children. Total homocysteine concentrations were significantly increased (p < 0.05) and folate and vitamin B6 levels were significantly decreased (p < 0.01) in the children taking anti-epileptic drugs compared with our reference ranges. In the carbamazepine-treated group, significantly positive correlation was found between duration of treatment and homocysteine concentration (p < 0.01). Homocysteine concentrations showed a significantly negative correlation with vitamin levels (folate: p = 0.002, and vitamin B12: p = 0.017) only in the carbamazepine treated group. In children treated with carbamazepine up to 3 years, total homocysteine concentration correlated negatively only with folate (p = 0.003), while in patients treated for more than 3 years, total homocysteine correlated negatively only with vitamin B12 values (p = 0.007). The lowering action of carbamazepine treatment on folate levels seems to be associated with hyperhomocysteinaemia, which seems to be related to the homozygous condition for the MTHFR 677C-->T mutation. Valproic acid treatment, although also associated with hyperhomocysteinaemia, only shows a lowering effect on vitamin B6 levels, which seems to be independent of the MTHFR genotype.     

东莞市学龄前儿童维生素A缺乏现状及维生素A对血清铁蛋白及红细胞参数的影响

目的 了解东莞市学龄前儿童维生素A缺乏现状,探讨维生素A对血清铁蛋白、红细胞及网织红细胞参数的影响。方法 于2015年4月至2016年12月通过整群抽样方法,选取东莞市无现患疾病的学龄前儿童（3~6岁）2 085例,对所选儿童进行血常规、网织红细胞计数、血清铁蛋白、血红蛋白电泳及维生素A浓度检测。分析年龄、性别与维生素A浓度及血清铁蛋白浓度的关系,维生素A浓度对血清铁蛋白、红细胞及网织红细胞参数的影响以及维生素A缺乏加重储存铁减少对红细胞参数的影响。结果 储存铁减少的儿童占比为6.71%（140/2 085）;维生素A缺乏儿童占比为32.52%（678/2 085）,其中亚临床缺乏占维生素A缺乏总人数的95.4%（647/678）,临床缺乏占维生素A缺乏总人数的4.6%（31/678）。不同性别组儿童维生素A浓度比较差异无统计学意义（P > 0.05）,但女性儿童血清铁蛋白浓度高于男性（P < 0.05）。维生素A临床缺乏组儿童血清铁蛋白浓度高于亚临床缺乏组和正常组（P < 0.05）。维生素A缺乏时,储存铁减少组平均红细胞体积和平均红细胞血红蛋白含量较储存铁正常组降低（P < 0.05）。维生素A缺乏组血红蛋白浓度、平均红细胞血红蛋白浓度、红细胞计数、红细胞压积、网织红细胞绝对值、网织红细胞百分比、网织红细胞血红蛋白含量均低于维生素A正常组,而平均红细胞体积高于维生素A正常组（P < 0.05）。结论 东莞市学龄前儿童维生素A缺乏状况仍较严重;维生素A缺乏可对血清铁蛋白、红细胞以及网织红细胞参数产生影响。     

孕期甲基供体营养素与子代DNA甲基化关系的研究进展

孕期的营养对子代的健康起着非常重要的作用。叶酸、维生素B_(12)、胆碱、甜菜碱和蛋氨酸等营养素作为甲基基团供体直接影响DNA的甲基化,与子代健康关系密切。作为表观遗传学的重要组成部分之一,DNA甲基化在维持正常细胞功能、调节基因表达以及胚胎发育过程中起着重要作用。近年来的研究表明孕期营养可通过改变基因组DNA和/或特定基因启动子区域甲基化水平,进而对子代健康造成深远的影响。因此,该文就孕期甲基供体营养素对DNA甲基化的影响,从分子水平探讨其对子代健康的作用。