Inactivating mutations in the 25-hydroxyvitamin D3 1-alpha-hydroxylase gene in patients with pseudovitamin D-deficiency rickets

Article Abstract:

A genetic mutation causing an enzyme deficiency may be responsible for pseudovitamin D-deficiency rickets. This disease causes weakness, growth failure, depressed blood calcium levels, and bone deformity. Researchers in Japan studied four unrelated rickets patients and four of their relatives to look for a genetic basis for the disease. Four mutations in a gene responsible for vitamin D conversion in the body were identified in the patients with rickets. The mutations eliminated activity of an important metabolic enzyme in patients with pseudovitamin D-deficiency rickets.

Health aspects, Gene mutations, Gene mutation, Vitamin D, Vitamin metabolism, Rickets, Vitamin D deficiency, Vitamin D metabolism

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Androgen-insensitivity syndrome as a possible coactivator disease

Article Abstract:

A case study of a female patient with complete androgen-insensitivity syndrome in the absence of androgen receptor gene mutations is presented. The activation function 1 domain of her androgen receptor was disrupted, with a missing intermediary coactivator that links the domain to target genes.

Statistical Data Included, Case studies, Reproductive organs, Female, Female genitalia

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A novel explanation for resistance to androgens

Article Abstract:

The absence of a protein involved in transcribing genes that are activated by androgens may cause some cases of androgen insensitivity. Androgen insensitivity is a sex-linked disorder that can affect men and women.

Editorial, Genetic regulation, Genetic transcription, Transcription (Genetics), X chromosome

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