Bian Yunmeng, Wei Gang, Song Xiao, Yuan Li, Chen Hongyan, Ni Ting, Lu Daru
State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, Institute of Genetics, School of Life Sciences, Fudan University, Shanghai 200438, P.R. China.
Department of Thoracic Surgery, Shanghai Pulmonary Hospital, Tongji University, Shanghai 200433, P.R. China.
Exp Ther Med. 2019 Aug;18(2):1155-1163. doi: 10.3892/etm.2019.7663. Epub 2019 Jun 11.
Premature hair graying, or canities, is a complex multi-factorial process with negative effects on affected individuals. The aim of the present study was to investigate the possible underlying mechanisms of premature hair graying at the genetic level. A total of 5 unrelated Han Chinese individuals presenting with premature hair graying (25-40 years old, with >1% hair affected) were enrolled in the present study. RNA sequencing was performed to identify gene expression changes between the follicular cells of grey and black hair from the cohort. A total of 127 differentially expressed genes (DEGs) were identified. These DEGs were overrepresented in categories associated with the pigmentation pathway, with a decreased expression of key genes responsible for melanin synthesis. Of note, the decreased expression of certain transcription factors and the increased expression of certain precursor microRNAs observed may explain for the downregulation of certain other DEGs, which were identified as their targets via Starbase v2 and Integrated Motif Activity Response Analysis. The DEGs were also enriched in terms associated with the nervous system, indicating that neural disturbances may also have certain roles in premature hair graying. Of note, five of the downregulated DEGs were associated with aging according to the JenAge Aging Factor Database. To the best of our knowledge, the present study was the first genome-wide survey of the gene expression profile associated with premature hair graying. Dysfunction of the melanin biosynthesis pathway is probably the direct cause of hair graying and the present results provide valuable clues for further functional and mechanistic investigation.
早发性白发，即灰发症，是一个复杂的多因素过程，对受影响个体有负面影响。本研究的目的是在基因水平上探究早发性白发可能的潜在机制。本研究共纳入了5名无亲缘关系的汉族早发性白发患者（年龄在25至40岁之间，超过1%的头发受累）。进行RNA测序以确定该队列中灰发和黑发毛囊细胞之间的基因表达变化。共鉴定出127个差异表达基因（DEG）。这些DEG在与色素沉着途径相关的类别中过度富集，负责黑色素合成的关键基因表达降低。值得注意的是，观察到某些转录因子表达降低以及某些前体微小RNA表达增加，这可能解释了某些其他被鉴定为其靶标的DEG表达下调，这些靶标是通过Starbase v2和综合基序活性反应分析确定的。这些DEG在与神经系统相关的术语中也有富集，表明神经紊乱在早发性白发中可能也起一定作用。值得注意的是，根据JenAge衰老因子数据库，下调的DEG中有五个与衰老相关。据我们所知，本研究是首次对与早发性白发相关的基因表达谱进行全基因组调查。黑色素生物合成途径功能障碍可能是头发变白的直接原因，本研究结果为进一步的功能和机制研究提供了有价值的线索。
