الفهرس | Only 14 pages are availabe for public view |
Abstract Midline anomaly can be best described as a defect that occurs in the middle or center of the body. Hypospadias and neural tube defects are the most common prevalent midline anomalies. Hypospadias is an important health issue and can be a significant burden on health-care resources. A significant percentage of patients suffer from cosmetic or functional difficulties that can affect urinary and sexual function. The causes of hypospadias are still unknown. However, the existing hypotheses attribute this to a group of factors including environmental and genetic factors. The treatment of hypospadias depends on its type but in general, most cases are treated by surgery. Several mutations have been detected that may be implicated in this disease including androgen independent genes mutations and mutations in the androgen dependent genes, especially mutations that affect androgen synthesis or androgen receptors. Neural tube defect is a general term for a congenital malformation of the central nervous system occurring secondary to lack of closure of the neural tube and leads to motor and sensory deficits in the lower extremities, neurogenic bladder, and orthopedic deformities. Neural tube defects occur due to a variety of factors including genetic and environmental factors. The MTHFR plays a key role in folate-dependent homocysteine metabolism. It reduces 5, 10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, and engages in the vitamin B12-dependent remethylation of homocysteine to methionine. This reaction is an imperative step as it is important for DNA synthesis. |