ABSTRACT
PURPOSE: We aim to explore a potential treatment strategy for hair loss. MATERIALS AND METHODS: A male 6-year-old child was diagnosed with hidrotic ectodermal dysplasia 2 (HED2) caused by GJB6 (p.G11R) mutations. He presented at our clinic with diffuse thinning and fine and brittle hair since birth. Additionally, the child exhibited abnormal development of teeth, fingernails, and toenails. The condition of the child's hair had not improved significantly with age. He was treated with botanical extracts combined with Minoxidil. RESULTS: After one and a half months of treatment, the patient showed remarkable hair growth. CONCLUSIONS: Our team has previously used botanical extracts in combination for the treatment of autosomal recessive wooly hair in children. In the present case, treatment with botanical extract combined with minoxidil was found to be equally efficacious. This case report provides valuable information for future studies on the use of botanical extracts in treating hair loss, as well as a safe and effective potential treatment strategy for children with congenital alopecia.
Subject(s)
Alopecia , Ectodermal Dysplasia , Minoxidil , Plant Extracts , Humans , Male , Child , Plant Extracts/administration & dosage , Alopecia/drug therapy , Alopecia/pathology , Ectodermal Dysplasia/drug therapy , Ectodermal Dysplasia/genetics , Ectodermal Dysplasia/pathology , Drug Therapy, Combination , Mutation , Treatment Outcome , Connexins/geneticsABSTRACT
Chloroplasts play an essential role in plant growth and development. Any factors affecting chloroplast development will lead to abnormal plant growth. Here, we characterized a new maize mutant, albino seedling mutant 81647 (as-81647), which exhibits an entirely albino phenotype in leaves and eventually died before the three-leaf stage. Transmission electron microscopy (TEM) demonstrated that the chloroplast thylakoid membrane was impaired and the granum lamellae significantly decreased in as-81647. Map-based cloning and transgenic analysis confirmed that PPR647 encodes a new chloroplast protein consisting of 11 pentratricopeptide repeat domains. Quantitative real-time PCR (qRT-PCR) assays and transcriptome analysis (RNA-seq) showed that the PPR647 mutation significantly disrupted the expression of PEP-dependent plastid genes. In addition, RNA splicing and RNA editing of multiple chloroplast genes showed severe defects in as-81647. These results indicated that PPR647 is crucial for RNA editing, RNA splicing of chloroplast genes, and plays an essential role in chloroplast development.
Subject(s)
Chloroplasts/physiology , Plant Proteins/genetics , RNA Editing , RNA Splicing , RNA, Chloroplast/metabolism , Zea mays/genetics , Zea mays/metabolism , Chloroplasts/ultrastructure , Gene Expression Regulation, Plant , Genes, Chloroplast , Mutation , Phenotype , Phylogeny , Plant Leaves/cytology , Plant Proteins/metabolism , Protein Domains , Seedlings/genetics , Seedlings/metabolism , Thylakoids/physiology , Thylakoids/ultrastructureABSTRACT
Maize (Zea mays L.) is a commercially important crop. Its yield can be reduced by mutations in biosynthetic and degradative pathways that cause death. In this paper, we describe the necrotic leaf (nec-t) mutant, which was obtained from an inbred line, 81647. The nec-t mutant plants had yellow leaves with necrotic spots, reduced chlorophyll content, and the etiolated seedlings died under normal growth conditions. Transmission electron microscopy revealed scattered thylakoids, and reduced numbers of grana lamellae and chloroplasts per cell. Histochemical staining suggested that spot formation of nec-t leaves might be due to cell death. Genetic analysis showed that necrosis was caused by the mutation of a recessive locus. Using simple sequence repeat markers, the Nec-t gene was mapped between mmc0111 and bnlg2277 on the short arm of chromosome 2. A total of 1287 individuals with the mutant phenotype from a F2 population were used for physical mapping. The Nec-t gene was located between markers T31 and H8 within a physical region of 131.7 kb.