Immunology-oncology Section, Maisonneuve-Rosemont Hospital Research Center, Montréal, Québec, Canada.
Département de microbiologie, infectiologie et immunologie, Université de Montréal, Montréal, Québec, Canada.
PLoS One. 2020 Oct 21;15(10):e0239860. doi: 10.1371/journal.pone.0239860. eCollection 2020.
Leigh Syndrome French Canadian (LSFC) is a rare autosomal recessive metabolic disorder characterized by severe lactic acidosis crises and early mortality. LSFC patients carry mutations in the Leucine Rich Pentatricopeptide Repeat Containing (LRPPRC) gene, which lead to defects in the respiratory chain complexes and mitochondrial dysfunction. Mitochondrial respiration modulates cellular metabolic activity, which impacts many cell types including the differentiation and function of immune cells. Hence, we postulated that, in addition to neurological and metabolic disorders, LSFC patients may show impaired immune activity. To gain insight into the quality of the immune response in LSFC patients, we examined the response to the measles, mumps and rubella (MMR) vaccine by measuring antibody titers to MMR in the plasma. In a cohort of eight LSFC patients, the response to the MMR vaccine was variable, with some individuals showing antibodies to all three viruses, while others had antibodies to two or fewer viruses. These results suggest that the mutations in the LRPPRC gene present in LSFC patients may affect the immune response to vaccines. Monitoring vaccine response in this fragile population should be considered to ensure full protection against pathogens.
Leigh 综合征法裔加拿大人（LSFC）是一种罕见的常染色体隐性代谢疾病，其特征为严重的乳酸酸中毒危象和早期死亡率。LSFC 患者携带 Leucine Rich Pentatricopeptide Repeat Containing（LRPPRC）基因突变，导致呼吸链复合物缺陷和线粒体功能障碍。线粒体呼吸调节细胞代谢活性，影响包括免疫细胞分化和功能在内的许多细胞类型。因此，我们假设 LSFC 患者除了存在神经和代谢紊乱外，还可能表现出免疫活性受损。为了深入了解 LSFC 患者的免疫反应质量，我们通过测量血浆中 MMR 抗体滴度来检查对麻疹、腮腺炎和风疹（MMR）疫苗的反应。在 8 名 LSFC 患者的队列中，对 MMR 疫苗的反应存在差异，一些个体对所有三种病毒均有抗体，而另一些个体对两种或更少的病毒有抗体。这些结果表明，LRPPRC 基因突变可能影响疫苗的免疫反应。应考虑监测该脆弱人群的疫苗反应，以确保充分预防病原体。
