Fragile X Syndrome

Research Paper # 47286

Biology > Genetics
Biology > Molecular and Cell
Medical and Health > Medical Studies

Fragile X Syndrome

Discussing the paradigm for understanding normal and disordered neuronal development, known as Fragile X Syndrome.

7,532 words () | 44 sources | MLA | 2003 Canada

Paper Summary:

Examination of Fragile X Syndrome from a genetic, neurological, and neuro-psychological perspective. Includes current research on this disorder. It provides information about the characteristics of the disorder, treatment available, and medical research performed. It also examines how this disorder affects a sufferer's daily life.

Table of Contents
I. Introduction
i. Physical characteristics
ii. Behavioural and non-physical characteristics
II. Neuronal Development
i. Normal development
ii. Development in FraX
III. Fragile X Mental Retardation Gene (FMR1)
i. FMR1 and FraX
ii. Gender differences
IV. Fragile X Mental Retardation Protein (FMRP)
i. FMR1 mutation and FMRP
ii. FMRP and synaptic plasticity
iii. Evidence from animal models and non-human studies
iv. FMRP as mRNA-binding protein
V. Molecular-Genetic Basis of Fragile X Syndrome
i. Normal development
ii. Moderate FMRP deficiency
iii. Severe FMRP deficiency
iv. Mechanism of FMRP in mediating neuronal development
VI. FMRP and Development of Fragile X: Hypotheses
i. FMRP and synapse formation during development
ii. FMRP and translation at postsynaptic site
VII. FRAXE and FMR2
i. Mutation and phenotype
VIII. Brain Abnormalities
i. Evidence from structural magnetic resonance imaging studies
IX. Neuro-psychological Profiles
i. Males with FraX
ii. Females with FraX
X. Current Research
i. Cortisol and stress-related behavior in children with FraX
ii. Neurocognition in female permutation carriers
iii. FRAXE and obsessive-compulsive disorder
iv. Fragile X permutation and neurologic disorders
XI. Future Directions of Research
i. Potential areas of exploration
ii. Treatment
XII. References

From the Paper:

"Fragile X syndrome (FraX) is the single most common form of inherited mental impairment (Glaser et al., 2003). Studies place prevalence rates of the disorder at approximately 1 in 2000-5000 live births, affecting as many as 1 in 4000 females and twice as many males (Churchill et al., 2002). It is second only to Down syndrome as a cause of mental impairment and appears in children of all ethnic, racial, and socio-economic backgrounds (Fragile X Association, 2003). The pace of research into the genetic, molecular, anatomical, neuropsychological, and psychosocial factors underlying this disorder has grown at an exponential rate in recent years. FraX is described by Nobel Laureate and co-discoverer of the DNA double-helix, Dr. James D. Watson, as the "first major triumph of the genome project" (FRAXA Research Foundation, 2002), and its potential as a paradigm of study by which to understand normal and disordered processes of development is immeasurable."