Utility of Scalp Hair Follicles as a Novel Source of Biomarker Genes for Psychiatric Illnesses

Maekawa, Motoko; Yamada, Kazuo; Toyoshima, Manabu; Ohnishi, Tetsuo; Iwayama, Yoshimi; Shimamoto, Chie; Toyota, Tomoko; Nozaki, Yayoi; Balan, Shabeesh; Matsuzaki, Hideo; Iwata, Yasuhide; Suzuki, Katsuaki; Miyashita, Mitsuhiro; Kikuchi, Mitsuru; Kato, Masaaki; Okada, Yohei; Akamatsu, Wado; Mori, Norio; Owada, Yuji; Itokawa, Masanari; Okano, Hideyuki; Yoshikawa, Takeo

doi:10.1016/j.biopsych.2014.07.025

Cited by 42 publications

(47 citation statements)

References 42 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Maekawa et al utilized scalp hair follicles as a source of biomarker genes and found that the gene CNTNAP2 showed significantly decreased expression in samples from subjects with ASD compared with control follicles (Maekawa et al, 2015). …”

Section: Hair Follicle Gene Expression Studiesmentioning

confidence: 99%

“…CNTNAP2, a neurexin family protein that acts as a neuronal adhesion molecule and receptor. It was found to be a direct neural target of the human FOXP2 protein, and mutations of FOXP2 and CNTNAP2 were linked to language and speech disorders in ASD (Maekawa et al, 2015). The FOXP1 gene, which was found to be elevated in ASD subjects according to Chien et al functions as a transcription repressor, forms a heterodimer with FOXP2, and is co-expressed with FOXP2 in numerous brain regions, suggesting close functional cooperation between the two proteins.…”

Section: Gene Expression In Asd-summary (Table 2)mentioning

confidence: 99%

See 1 more Smart Citation

Variation in Gene Expression in Autism Spectrum Disorders: An Extensive Review of Transcriptomic Studies

Ansel¹,

Rosenzweig²,

Zisman³

et al. 2017

Front. Neurosci.

View full text Add to dashboard Cite

Autism spectrum disorders (ASDs) are a group of complex neurodevelopmental conditions that present in early childhood and have a current estimated prevalence of about 1 in 68 US children, 1 in 42 boys. ASDs are heterogeneous, and arise from epigenetic, genetic and environmental origins, yet, the exact etiology of ASDs still remains unknown. Individuals with ASDs are characterized by having deficits in social interaction, impaired communication and a range of stereotyped and repetitive behaviors. Currently, a diagnosis of ASD is based solely on behavioral assessments and phenotype. Hundreds of diverse ASD susceptibility genes have been identified, yet none of the mutations found account for more than a small subset of autism cases. Therefore, a genetic diagnosis is not yet possible for the majority of the ASD population. The susceptibility genes that have been identified are involved in a wide and varied range of biological functions. Since the genetics of ASDs is so diverse, information on genome function as provided by transcriptomic data is essential to further our understanding. Gene expression studies have been extremely useful in comparing groups of individuals with ASD and control samples in order to measure which genes (or group of genes) are dysregulated in the ASD group. Transcriptomic studies are essential as a key link between measuring protein levels and analyzing genetic information. This review of recent autism gene expression studies highlights genes that are expressed in the brain, immune system, and processes such as cell metabolism and embryology. Various biological processes have been shown to be implicated with ASD individuals as well as differences in gene expression levels between different types of biological tissues. Some studies use gene expression to attempt to separate autism into different subtypes. An updated list of genes shown to be significantly dysregulated in individuals with autism from all recent ASD expression studies will help further research isolate any patterns useful for diagnosis or understanding the mechanisms involved. The functional relevance of transcriptomic studies as a method of classifying and diagnosing ASD cannot be underestimated despite the possible limitations of transcriptomic studies.

show abstract

Section: Hair Follicle Gene Expression Studiesmentioning

confidence: 99%

Section: Gene Expression In Asd-summary (Table 2)mentioning

confidence: 99%

Variation in Gene Expression in Autism Spectrum Disorders: An Extensive Review of Transcriptomic Studies

Ansel¹,

Rosenzweig²,

Zisman³

et al. 2017

Front. Neurosci.

View full text Add to dashboard Cite

show abstract

“…Plucked follicles are also amenable to image analysis in order to quantify treatment-related changes of specific markers. For example, a trend toward downregulation of fatty acid binding protein 4(FABP4) expression in plucked human scalp hair follicles was found to be correlated with a diagnosis of schizophrenia, suggesting that the use of plucked hair follicles could be a beneficial genetic biomarker resource for brain diseases (Maekawa et al 2015).…”

Section: Plucked Human Scalp Hair Follicle Analysismentioning

confidence: 99%

In Vitro Skin Models and Their Predictability in Defining Normal and Disease Biology, Pharmacology, and Toxicity

Danilenko¹,

Phillips²,

Diaz³

2016

Toxicol Pathol

View full text Add to dashboard Cite

In vitro skin model systems are increasingly being used both in the early evaluation of therapeutic drug candidates and in confirmatory mechanistic studies. The most commonly used of these in vitro model systems are reconstituted human epidermis (RHE) models. These RHE models consist solely of epidermal keratinocytes, which comes with some limitations but also with the advantage of focusing toxicologic and pharmacologic evaluation on keratinocytes alone. RHE models can generally be implemented more quickly, easily, and reproducibly than in vivo models and can thus be used for high throughput compound screening while potentially reducing the need for animal studies. Histologic evaluation of RHE sections can be done quite easily, and the sections are very amenable to quantification via image analysis, including automated analysis. RHE model systems can provide very valuable early indications of therapeutic candidate biology, pharmacology, and toxicity; and early results have demonstrated that RHE models have been quite predictive for in vivo pharmacologic and toxicologic effects on the skin, including clinical skin toxicity.

show abstract

“…; Maekawa et al. ), hair follicles were used to explore the HIIT‐responsive transcriptomic biomarkers.…”

Section: Resultsmentioning

confidence: 99%

“…; Maekawa et al. ). It has also been suggested as a potential minimally‐invasive model to study global changes in gene expression with various modes of physical activity (Takahashi et al.…”

Section: Introductionmentioning

confidence: 97%

Human hair follicle transcriptome profiling: a minimally invasive tool to assess molecular adaptations upon low‐volume, high‐intensity interval training

et al. 2017

View full text Add to dashboard Cite

High‐intensity interval training (HIIT) has become a popular fitness training approach under both civilian and military settings. Consisting of brief and intense exercise intervals, HIIT requires less time commitment yet is able to produce the consistent targeted physical adaptations as conventional endurance training. To effectively characterize and monitor HIIT‐induced cellular and molecular responses, a highly accessible yet comprehensive biomarker discovery source is desirable. Both gene differential expression (DE) and gene set (GS) analyses were conducted using hair follicle transcriptome established from pre and postexercise subjects upon a 10‐day HIIT program by RNA‐Seq, Comparing between pre and posttraining groups, differentially expressed protein coding genes were identified. To interpret the functional significance of the DE results, a comprehensive GS analysis approach featuring multiple algorithms was used to enrich gene ontology (GO) terms and KEGG pathways. The GS analysis revealed enriched themes such as energy metabolism, cell proliferation/growth/survival, muscle adaptations, and cytokine–cytokine interaction, all of which have been previously proposed as HIIT responses. Moreover, related cell signaling pathways were also measured. Specifically, G‐protein‐mediated signal transduction, phosphatidylinositide 3‐kinases (PI3K) – protein kinase B (PKB) and Janus kinase (JAK) – Signal Transducer and Activator of Transcription (STAT) signaling cascades were over‐represented. Additionally, the RNA‐Seq analysis also identified several HIIT‐responsive microRNAs (miRNAs) that were involved in regulating hair follicle‐specific processes, such as miR‐99a. For the first time, this study demonstrated that both existing and new biomarkers like miRNA can be explored for HIIT using the transcriptomic responses exhibited by the hair follicle.

show abstract

Utility of Scalp Hair Follicles as a Novel Source of Biomarker Genes for Psychiatric Illnesses

Abstract: Scalp hair follicles could be a beneficial genetic biomarker resource for brain diseases, and further studies of FABP4 are merited in schizophrenia pathogenesis.

Cited by 42 publications

References 42 publications

Variation in Gene Expression in Autism Spectrum Disorders: An Extensive Review of Transcriptomic Studies

Variation in Gene Expression in Autism Spectrum Disorders: An Extensive Review of Transcriptomic Studies

In Vitro Skin Models and Their Predictability in Defining Normal and Disease Biology, Pharmacology, and Toxicity

Human hair follicle transcriptome profiling: a minimally invasive tool to assess molecular adaptations upon low‐volume, high‐intensity interval training

Contact Info

Product

Resources

About