Pak Jaewoo, Lee Jung Hun, Jeon Jeong Ho, Kim Young Bae, Jeong Byeong Chul, Lee Sang Hee
Mipro Medical Clinic, Seoul, South Korea.
First Medical Center, Cerritos, CA, United States.
Front Bioeng Biotechnol. 2020 Oct 21;8:574010. doi: 10.3389/fbioe.2020.574010. eCollection 2020.
Hutchinson-Gilford progeria syndrome (HGPS) is a rare, fatal, and genetic disorder in the gene encoding for prelamin A. Normally, prelamin A is processed to become lamin A protein. In HGPS patients, there is a heterozygous mutation in gene, in which there is a deletion of genetic codes responsible for 50 amino acids at the C-terminus of prelamin A. The processing of the abnormal prelamin A results in abnormal lamin A protein, called progerin, causing symptoms of accelerated early aging, probably due to the inflammaging process. It is well known that adipose tissue-derived mesenchymal stem cells (MSCs) have anti-inflammatory effects by modulating inflammatory cytokines and by extracellular vesicles. Here, we present a case of an HGPS patient who responded positively to injections of allogeneic haploidentical adipose tissue-derived stromal vascular fractions containing MSCs by showing rapid height and weight growth along with increased blood level of insulin-like growth factor 1.
哈钦森-吉尔福德早衰综合征（HGPS）是一种罕见的、致命的遗传性疾病，由编码前体核纤层蛋白A的基因突变引起。正常情况下，前体核纤层蛋白A经过加工后成为核纤层蛋白A。在HGPS患者中，该基因存在杂合突变，其中负责前体核纤层蛋白A C端50个氨基酸的遗传密码缺失。异常前体核纤层蛋白A的加工导致异常的核纤层蛋白A，即早老素，引发加速衰老的症状，这可能是由于炎症衰老过程。众所周知，脂肪组织来源的间充质干细胞（MSCs）通过调节炎性细胞因子和细胞外囊泡发挥抗炎作用。在此，我们报告一例HGPS患者，其对注射含有MSCs的同种异体单倍体脂肪组织来源的基质血管成分产生了积极反应，表现为身高和体重快速增长，同时胰岛素样生长因子1的血液水平升高。
