Nuclear genetic mutations have been extensively investigated in solid tumors. However, the role of the mitochondrial genome remains uncertain. Since the metabolism of solid tumors is associated with aerobic glycolysis and high lactate production, tumors may have mitochondrial dysfunctions. Familial adenomatous polyposis (FAP) is a rare form‌ of colorectal cancer and an autosomal dominant inheri...

Neonatal diabetes (ND) is defined as persistent hyperglycemia in the first 3 months of life (1). Heterozygous— usually autosomal-dominant—activating mutations in KCNJ11, which encode the Kir6.2 subunit of the ATP-potassium (KATP) channel, cause the majority of cases (2). Sulfonylureas close the KATP channel by an ATP independent route (2). A 25-year-old Bangladeshi woman with type 1 diabetes ga...

changes in the diagnosis and treatment of diabetes presenting in the first 6 months of life. It is now known that this form of diabetes, which develops in the neonatal period, is often caused by a change in a single gene (monogenic) and is not type 1 diabetes (Slingerland and Hattersley, 2005; Edghill et al, 2006). These major changes have resulted from the identification of neonatal diabetes a...

BACKGROUND Genome-wide association studies have identified susceptibility genes for development of type 2 diabetes. We aimed to examine whether a subset of these (comprising FTO, IDE, KCNJ11, PPARG and TCF7L2) were transcriptionally restricted to or enriched in human beta cells by sorting islet cells into alpha and beta - specific fractions. We also aimed to correlate expression of these transc...

BACKGROUND Isolated sulfite oxidase deficiency (ISOD), caused by mutations in SUOX gene, is an autosomal recessive disease manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. It mimics hypoxic-ischemic encephalopathy (HIE) the neonatal period characterized progressive severe neurological impairment due to accumulation of toxic metabolites. CASE This report ...

OBJECTIVE Type 2 diabetes is a common complex disorder with environmental and genetic components. We used a candidate gene-based approach to identify single nucleotide polymorphism (SNP) variants in 222 candidate genes that influence susceptibility to type 2 diabetes. RESEARCH DESIGN AND METHODS In a case-control study of 1,161 type 2 diabetic subjects and 1,174 control Finns who are normal g...

Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic β-cells secondary to various genetic disorders. The incidence is estimated at 1/50, 000 live births, but it may be as high as 1/2, 500 in countries with substantial consanguinity. Recurrent episodes of hyperinsulinemic hypoglycemia may expose to high risk of brain damage. Hypoglycemias are diagnosed because ...

OBJECTIVE Congenital hyperinsulinism (CHI) may be due to diffuse or focal pancreatic disease. The diffuse form is associated with an increase in the size of beta-cell nuclei throughout the whole of the pancreas and most commonly results from recessive ATP-sensitive K(+) channel (K(ATP) channel) mutations. Focal lesions are the consequence of somatic uniparental disomy for a paternally inherited...

neonatal diabetes mellitus (ndm) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. clinically, it is categorized into two main types: transient ndm (tndm) and permanent ndm (pndm). these types are diagnosed based on duration of insulin dependence early in the disease. in tndm, diabetes begins in the first few weeks of life with remission in a few months. howev...