The Role of Vitamin D Receptor Mutations in the Development of Alopecia

June 2011 in “ Molecular and Cellular Endocrinology ”

Peter J. Malloy, David Feldman, Peter J. Malloy, David Feldman

vitamin D receptor VDR mutations alopecia Hereditary Vitamin D Resistant Rickets HVDRR hairless protein HR RXR heterodimerization DNA binding negative regulator hair cycle

Studysummary Vitamin D receptor mutations can cause alopecia by affecting hair growth genes.

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research Genetic Disorders and Defects in Vitamin D Action

151 citations , June 2010 in “Endocrinology and metabolism clinics of North America”

This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.

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53 citations , May 2010 in “Journal of Cellular Physiology”

This study found that mice lacking the Vitamin D receptor showed disrupted hair follicle cycling, which was partially restored with hedgehog signaling pathway activation, suggesting a role for this pathway in follicle regulation independent of vitamin D.

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This study concluded that the hairless protein interacts with the vitamin D receptor to repress transcription crucial for hair cycling, employing multiple protein interfaces and modulating chromatin structure.

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18 citations , October 2009 in “Endocrinology”

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This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.

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1533 citations , October 2008 in “Endocrine reviews”

This research highlights that engineered mice lacking the vitamin D receptor show multiple health issues similar to human vitamin D deficiency, underscoring the widespread impacts of the vitamin D endocrine system.

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research Vitamin D Receptor Is Essential For Normal Keratinocyte Stem Cell Function

143 citations , May 2007 in “Proceedings of the National Academy of Sciences”

This study found that absence of the vitamin D receptor in keratinocytes impairs canonical Wnt signaling and leads to alopecia due to defects in keratinocyte stem cells.

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This study found that hair follicle homeostasis in mice requires vitamin D receptor expression in keratinocytes, independent of its ligand activation.

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37 citations , October 2006 in “Archives of Biochemistry and Biophysics”

This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.

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74 citations , September 2006 in “Cell Cycle”

This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.

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This study found that preventing abnormal mineral ion homeostasis in vitamin D receptor knockout mice stopped bone abnormalities, while the animal's skin phenotype arose from direct receptor effects independent of vitamin D.

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137 citations , September 2005 in “Proceedings of the National Academy of Sciences of the United States of America”

In this study, researchers found that transgenic expression of the Hairless gene in keratinocytes can restore hair follicle regeneration in Hr-deficient mice by repressing Wise, a modulator of Wnt signaling.

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This study found that the effects of the vitamin D receptor on hair follicle cycling in mice are independent of its ability to bind a hormone, with specific domain mutations influencing hair regrowth outcomes.

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215 citations , September 2003 in “Journal of Biological Chemistry”

This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.

Hair-Cycle-Dependent Expression of Parathyroid Hormone-Related Protein and Its Type I Receptor: Evidence for Regulation at the Anagen to Catagen Transition

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This study found that overexpression of parathyroid hormone-related protein in mice resulted in 30–40% shorter hair due to premature transition into the catagen phase of the hair cycle.

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In this study, researchers concluded that hereditary 1,25-dihydroxyvitamin D-resistant rickets, characterized by specific mutations in the vitamin D receptor gene, may resolve metabolic abnormalities with age, though associated alopecia remains.

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47 citations , September 2002 in “Journal of Bone and Mineral Research”

This study found that a specific VDR amino acid substitution in children with hereditary vitamin D-resistant rickets disrupts ligand binding and gene activation but does not impair hair follicle development.

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69 citations , May 2002 in “Journal of Investigative Dermatology”

This study suggests that congenital atrichia with papular lesions may be more common than previously thought and proposes diagnostic criteria including the observation of hypopigmented whitish streaks on the scalp.

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115 citations , December 2001 in “Endocrinology”

This study found that restoring vitamin D receptor expression specifically in the keratinocytes of VDR null mice prevented alopecia and enhanced hair follicle response during anagen initiation.

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21 citations , December 2001 in “Endocrinology”

This study found that restoring vitamin D receptor expression in keratinocytes of VDR null mice prevents alopecia by enhancing the hair follicle's proliferative response during anagen initiation.

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139 citations , September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology”

This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.

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66 citations , December 1999 in “Journal of Investigative Dermatology”

New mutations in the hairless gene may cause hair loss and affect bone development.

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This study found that alopecia in hereditary resistance to 1,25(OH)2D may indicate a more severe form of the condition, associated with earlier diagnosis and different responses to calciferol therapy.

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This case study reported that absence of alopecia does not reliably predict responsiveness to vitamin D treatment in Vitamin D-dependent rickets type II, as demonstrated by a patient with normal hair growth who showed extreme resistance.

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This study found that calcitriol-resistant rickets is associated with alopecia in children and should be considered in the differential diagnosis of hair loss.

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This study found that alopecia in four children was linked to severe calcitriol-resistant rickets, suggesting this condition should be considered among inherited hair growth disorders.

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This study observed that children with a genetically transmitted defect in the 1,25-dihydroxyvitamin D3 receptor experienced spontaneous healing of rickets as they aged, despite persistent mineral imbalances during treatment.

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In this study, distinct clinical responses and long-term resistances were observed in two pediatric patients with vitamin D-dependency type II, associated with abnormalities in their skin fibroblast interactions with 1,25-(OH)2D3.

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This report describes two sisters with rickets and alopecia unresponsive to high doses of vitamin D2, where oral phosphorus supplements led to significant clinical improvement.