Birthday of a syndrome: 50 years anniversary of Smith–Lemli–Opitz Syndrome

Witsch‐Baumgartner, Martina; Lanthaler, Barbara

doi:10.1038/ejhg.2014.87

Cited by 5 publications

(3 citation statements)

References 19 publications

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“…In the last fifty years, the discovery of a rare syndrome called Smith-Lemli-Opitz syndrome (SLOS, OMIM #270400) which is caused by mutations in the DHCR7 gene provided interesting information [10,11]. SLOS has an incidence of 1:40,000 and it is clinically characterized by morphogenic and congenital aberrations, with cognitive retardation and altered behavior [12].…”

Section: Vitamin D and Skin: From Production To Final Effectmentioning

confidence: 99%

“…On the other hand, Movassaghi et al evaluated 53 pediatric patients with SLOS and found significantly higher levels of 25 hydroxyvitamin D (25OHD), the marker of vitamin D status, across all seasons (48.06 ± 19.53 ng/mL vs. 30.51 ± 16.14 ng/mL, p < 0.01), without signs of vitamin D intoxication (normal serum calcium) [16]. In the last fifty years, the discovery of a rare syndrome called Smith-Lemli-Opitz syndrome (SLOS, OMIM #270400) which is caused by mutations in the DHCR7 gene provided interesting information [10,11]. SLOS has an incidence of 1:40,000 and it is clinically characterized by morphogenic and congenital aberrations, with cognitive retardation and altered behavior [12].…”

Section: Vitamin D and Skin: From Production To Final Effectmentioning

confidence: 99%

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An Update on Vitamin D Metabolism

Saponaro

Saba

Zucchi

2020

IJMS

194

150

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Vitamin D is a steroid hormone classically involved in the calcium metabolism and bone homeostasis. Recently, new and interesting aspects of vitamin D metabolism has been elucidated, namely the special role of the skin, the metabolic control of liver hydroxylase CYP2R1, the specificity of 1α-hydroxylase in different tissues and cell types and the genomic, non-genomic and epigenomic effects of vitamin D receptor, which will be addressed in the present review. Moreover, in the last decades, several extraskeletal effects which can be attributed to vitamin D have been shown. These beneficial effects will be here summarized, focusing on the immune system and cardiovascular system.

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Section: Vitamin D and Skin: From Production To Final Effectmentioning

confidence: 99%

Section: Vitamin D and Skin: From Production To Final Effectmentioning

confidence: 99%

An Update on Vitamin D Metabolism

Saponaro

Saba

Zucchi

2020

IJMS

194

150

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“…In the last decades, numerous malformation syndromes have been associated with the inborn error of the CHOL synthesis (reviewed in [46]). The link between reduced CHOL synthesis and a serious health condition was described first for the Smith-LemliOpitz syndrome (SLOS) [29,59,65]. The SLOS phenotypic spectrum is very broad, ranging from a mild disorder with behavioral and learning problems to a lethal malformation syndrome (incidence of SLOS is 1 in 39,000 births [17]) [45,46].…”

Section: Introductionmentioning

confidence: 99%

7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome

Balajthy

Somodi

Pethő

et al. 2016

Pflugers Arch - Eur J Physiol

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In vitro manipulation of membrane sterol level affects the regulation of ion channels and consequently certain cellular functions; however, a comprehensive study that confirms the pathophysiological significance of these results is missing. The malfunction of 7-dehydrocholesterol (7DHC) reductase in Smith-Lemli-Opitz syndrome (SLOS) leads to the elevation of the 7-dehydrocholesterol level in the plasma membrane. T lymphocytes were isolated from SLOS patients to assess the effect of the in vivo altered membrane sterol composition on the operation of the voltage-gated Kv1.3 channel and the ion channel-dependent mitogenic responses. We found that the kinetic and equilibrium parameters of Kv1.3 activation changed in SLOS cells. Identical changes in Kv1.3 operation were observed when control/healthy T cells were loaded with 7DHC. Removal of the putative sterol binding sites on Kv1.3 resulted in a phenotype that was not influenced by the elevation in membrane sterol level. Functional assays exhibited impaired activation and proliferation rate of T cells probably partially due to the modified Kv1.3 operation. We concluded that the altered membrane sterol composition hindered the operation of Kv1.3 as well as the ion channel-controlled T cell functions.

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