Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor

Article Abstract:

Patients with familial persistent hyperinsulinemic hypoglycemia may have a mutation in the gene for a potassium channel in the pancreatic beta cells. This hereditary form of hypoglycemia is caused by an excessive production of insulin. A baby born to an Arabic couple had the physical characteristics of hyperinsulinemia and no detectable blood glucose. After unsuccessful treatment with intravenous glucose, 99% of her pancreas was surgically removed. Genetic analysis revealed that she had a mutation in the sulfonylurea receptor, which is a subunit of the potassium channel in beta cells.

Case studies, Cell receptors, Familial diseases, Hypoglycemia

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Contribution of BRCA1 mutations to ovarian cancer

Article Abstract:

The BRCA1 gene mutation probably accounts for about 5% of all cases of ovarian cancer. This was the conclusion of a study that performed DNA analysis on 374 women who were diagnosed with ovarian cancer before the age of 70. Thirteen of the women had the BRCA1 gene mutation, which has also been linked to familial breast cancer. Six of the mutations have never been reported before. Nine of the women had a family history of breast or ovarian cancer.

Ovarian cancer

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Early gastric cancer in young, asymptomatic carriers of germ-line E-cadherin mutations

Article Abstract:

People who have a particular mutation in the E-cadherin CDH1 gene may need to have their stomach removed to prevent stomach cancer. Five patients with a family history of stomach cancer who tested positive for the mutation had their stomachs removed. Extensive pathological examination of tissue samples revealed early signs of cancer that were not seen on endoscopy or in biopsy samples.

Prevention, Stomach cancer

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