What is FXTAS?
Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by problems with movement and thinking ability (cognition). FXTAS is a late-onset disorder, usually occurring after age 50, and its signs and symptoms worsen with age. This condition affects males more frequently and severely than females.
What are FMR1 related disorders?
Clinical characteristics: FMR1 disorders include fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and fragile X-associated primary ovarian insufficiency (FXPOI).
What does FMRP protein do?
The FMR1 gene provides instructions for making a protein called FMRP. This protein is present in many tissues, including the brain, testes, and ovaries. In the brain, it may play a role in the development of connections between nerve cells (synapses), where cell-to-cell communication occurs.
Is FXTAS neurodegenerative?
Fragile X–associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55–200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Additional disorders can co-occur with FXTAS including Alzheimer’s disease (AD).
Are tremors ataxia?
Balance problems, called ataxia. Intention tremor (shaking when trying to perform purposeful movements, such as touching one’s nose or grabbing something) Parkinson’s-like symptoms, such as muscle stiffness or rigidity, a shuffling gait or walk, and slowed speech.
Does everyone have the FMR1 gene?
In general, every person gets two copies of every gene. This is a little bit different for the FMR1 gene because it is on the “X” chromosome. Because males have only one “X” chromosome, they have only one copy of the FMR1 gene.
What chromosome is FMR1 on?
The chromosomes that form the 23rd pair are called the sex chromosomes. They decide if a person is male or female. Females have two X chromosomes (XX), and males have one X and one Y chromosome (XY). The FMR1 gene is on the X chromosome.
What type of protein is FMRP?
RNA binding protein
FMRP is an RNA binding protein that is part of a ribonucleoprotein particle associated to actively translating polyribosomes, and which can shuttle between nucleus and cytoplasm. Two highly homologous human proteins, FXR1P and FXR2P, share the same domain structure as FMRP, and probably similar functions.
Where is FMR1 gene located?
FMR1 is located on the X-chromosome and encodes the fragile X mental retardation protein (FMRP). FMRP has been shown to bind mRNA and regulate translation of specific synaptic proteins.