Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations

Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive inherited endocrine disease. Steroid 11 beta-hydroxylase deficiency (11 beta-OHD) is the second most common form of CAH. The aim of the study was to study the functional consequences of three novel and one previously described CYP11B1 gene mutations (p.(Arg143Trp), p.(Ala306Val), p.(Glu310Lys) and p.(Arg332Gln)) detected in patients suffering from classical and non-classical 11 beta-OHD. Functional analyses were performed by using a HEK293 cell in vitro expression system comparing wild type (WT) with mutant 11 beta-hydroxylase activity. Mutant proteins were examined in silico to study their effect on the three-dimensional structure of the protein. Two mutations (p.(Ala306Val) and p.(Glu310Lys)) detected in patients with classical 11 beta-OHD showed a nearly complete loss of 11 beta-hydroxylase activity. The mutations p.(Arg143Trp) and p.(Arg332Gln) detected in patients with non-classical 11 beta-OHD showed a partial functional impairment with approximately 8% and 6% of WT activity, respectively. Functional mutation analysis allows the classification of novel CYP11B1 mutations as causes of classical and non-classical 11 beta-OHD. The detection of patients with non-classical phenotypes underscores the importance to screen patients with a phenotype comparable to non-classical 21-hydroxylase deficiency for mutations in the CYP11B1 gene in case of a negative analysis of the CYP21A2 gene. As CYP 11B1 mutations are most often individual for a family, the in vitro analysis of novel mutations is essential for clinical and genetic counselling. published online 11 September 201

За кадры. 1965. № 19 (1100)

"Через века, через года - помните!"Экзамены приняли старт / В. АлександровНИИ физики твердого телаНаш V традиционный / В. Жмуренко, С. Савин, Д. ЦыремпиловНа конференции в НовосибирскеПартгруппа одной кафедры / Р. ХохловаУглубление знаний - основа культуры / С. ШварцевЭкзамены по физике / Л. КалачниковаО технической эстетике / О. УдодоваВажный фактор / Г. ПетроваЧастица добрых дел химиков / В. ХлыстунУ автоматчиков / Г. ВасильевСлово - гостям / Г. КостенкоСюрпризы спортсменов / Б. АфонинВпереди - встречи / А. ПетренкоДелитесь теплом / О. ФилософовВ общежитии / Т. НефедоваБерезы / В. ПетровСовременнику / В. ЧекалинО банальности / В. ИвановО поэзии наших дней / В. ИвановВ гостях у В. Иванова / В. ЗеленскийВесной в лес

Brain-computer interfaces and personhood: interdisciplinary deliberations on neural technology.

Scientists, engineers, and healthcare professionals are currently developing a variety of new devices under the category of brain-computer interfaces (BCIs). Current and future applications are both medical/assistive (e.g. for communication) and non-medical (e.g. for gaming). This array of possibilities has been met with both enthusiasm and ethical concern in various media, with no clear resolution of these conflicting sentiments. To better understand how BCIs may either harm or help the user, and to investigate whether ethical guidance is required, a meeting entitled 'BCIs and Personhood: A Deliberative Workshop' was held in May 2018. We argue that the hopes and fears associated with BCIs can be productively understood in terms of personhood, specifically the impact of BCIs on what it means to be a person and to be recognized as such by others. Our findings suggest that the development of neural technologies raises important questions about the concept of personhood and its role in society. Accordingly, we propose recommendations for BCI development and governance