FRAGILE X SYNDROME

Fragile X Syndrome

Fragile X Syndrome

Introduction

Fragile X Syndrome (FXS) is a family of genetic conditions which can influence persons and families in diverse ways. These genetic situations are associated in that they are all caused by gene alterations in the same gene, called the FMR1 gene (March of Dimes); it is the most common inherited cause of mental impairment.

In 1943, two researchers entitled Martin and chime was the first to show that a particular pattern of mental retardation (later renowned as Fragile X Syndrome or Martin-Bell Syndrome) was X-linked (genetic disorders that are due to mutations on the X chromosome). In 1969, Herbert Lubs evolved the chromosomal test for Fragile X in order to unquestionably recognise influenced patients. Checking was not done broadly or extensively until the late 1970's (March of Dimes).

FXS is the most widespread origin of inherited mental impairment. It is a single gene disorder carried by either a mother or a father. This impairment cans variety from discovering disabilities to more severe cognitive or thoughtful disabilities (sometimes mentioned to as mental retardation). FXS is the most common renowned origin of autism or "autistic-like" behaviors (Fast). Symptoms furthermore can encompass characteristic personal and behavioral features and hold ups in talk and language development.

Fragile X Syndrome is X-linked due to a mutation in the FMR1 gene. In 1991 the FMR1 (fragile X mental retardation 1) gene that determinants Fragile X was recognized; it is the gene that comprises the genetic information for how to synthesize FMRP (fragile X mental retardation protein). Fragile X Syndrome happens when FMRP is missing. Researchers are not sure what the genuine function of FMRP is but their estimate is that it revolves round protein synthesis. It is not essential for survival but manifestly does play a major function in how humans function. Consequently, if FMRP actually has no crucial contribution to cells then its nonattendance should not create any symptoms associated to FXS (Jewell).

Fragile X Syndrome is not a contagious disease like the common freezing, tuberculosis, or athlete's foot. Diseases like these are initiated by viruses, bacteria, and fungi. Infectious infections are often passed from one person to another through individual contact. Fragile X Syndrome is not initiated by a difficulty with nutrition; A person's diet may contribute to heart infection, the formation of gallstones, or heartburn. Nutritional infections are often caused by someone eating too much of or too little of a specific nutrient. Rather than, Fragile X Syndrome is conveyed from parent to child through the genetic data (DNA) that is present in the sperm and eggs.

Definition

Fragile X syndrome (FXS) is now the most widespread known inherited origin of developmental disabilities, but was not found out until the late 1970s. By 1980 it was found that persons showing certain mental and personal characteristics had a chromosomal abnormality caused by a partial shatter on an X chromosome, called a "fragile site". In 1991 the Fragile X gene was identified inside this location.

FXS is entitled after a location on the long arm of ...