ZFP57
ZFP57 zinc finger protein
Normal Function
Health Conditions Related to Genetic Changes
6q24-related transient neonatal diabetes mellitus
Mutations in the ZFP57 gene cause about 10 percent of cases of 6q24-related transient neonatal diabetes mellitus, a type of diabetes that occurs in infants. This disorder results from the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24.
People inherit two copies of their genes, one from their mother and one from their father. Usually both copies of each gene are active, or "turned on," in cells. In some cases, however, only one of the two copies is normally turned on. Which copy is active depends on the parent of origin: some genes are normally active only when they are inherited from a person's father; others are active only when inherited from a person's mother. This phenomenon is known as genomic imprinting.
The 6q24 region includes paternally expressed imprinted genes, which means that normally only the copy of each gene that comes from the father is active. The copy of each gene that comes from the mother is inactivated (silenced) by methylation.
ZFP57 gene mutations cause a generalized impairment of gene silencing called hypomethylation of imprinted loci (HIL), which affects many imprinted regions including the imprinted region of 6q24. The resulting overactivity of genes in the 6q24 region that are involved with the regulation of insulin secretion and the self-destruction of cells (apoptosis) may reduce the number of insulin-secreting beta cells or impair their function in affected individuals. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. A shortage of insulin results in the impaired blood glucose control associated with diabetes mellitus.
Because HIL resulting from ZFP57 gene mutations can affect expression of many imprinted genes, this mechanism may account for the additional health problems that occur in some people with 6q24-related transient neonatal diabetes mellitus, such as malformations of the brain, heart, or kidneys.
More About This Health ConditionRelated Conditions
6q24-related transient neonatal diabetes mellitus
Health Conditions Related to Genetic Changes
Mutations in the ZFP57 gene cause about 10 percent of cases of 6q24-related transient neonatal diabetes mellitus, a type of diabetes that occurs in infants. This disorder results from the overactivity (overexpression) of certain genes in a region of the long (q) arm of chromosome 6 called 6q24.
People inherit two copies of their genes, one from their mother and one from their father. Usually both copies of each gene are active, or "turned on," in cells. In some cases, however, only one of the two copies is normally turned on. Which copy is active depends on the parent of origin: some genes are normally active only when they are inherited from a person's father; others are active only when inherited from a person's mother. This phenomenon is known as genomic imprinting.
The 6q24 region includes paternally expressed imprinted genes, which means that normally only the copy of each gene that comes from the father is active. The copy of each gene that comes from the mother is inactivated (silenced) by methylation.
ZFP57 gene mutations cause a generalized impairment of gene silencing called hypomethylation of imprinted loci (HIL), which affects many imprinted regions including the imprinted region of 6q24. The resulting overactivity of genes in the 6q24 region that are involved with the regulation of insulin secretion and the self-destruction of cells (apoptosis) may reduce the number of insulin-secreting beta cells or impair their function in affected individuals. Insulin controls how much glucose (a type of sugar) is passed from the blood into cells for conversion to energy. A shortage of insulin results in the impaired blood glucose control associated with diabetes mellitus.
Because HIL resulting from ZFP57 gene mutations can affect expression of many imprinted genes, this mechanism may account for the additional health problems that occur in some people with 6q24-related transient neonatal diabetes mellitus, such as malformations of the brain, heart, or kidneys.