Womb: utero (materno)
Why: perché, per quale ragione, per quale motivo, i
motivi per cui
With a condition: chi soffre di disturbi
Hug: abbraccio
A study in…: Uno studio condotto su…
,
fragile X syndrome: sindrome dell’X fragile (FRAX)
Wiring: insieme delle connessioni
Part of the brain: area cerebrale
That responds: preposta, coinvolta
Is formed late: un ritardo nella formazione
Hypersensitive: ipersensibile
Key stage: livello chiave
Effective: efficace
To interfere in: interferire con
fragile X mental retardation protein: FMRP
the protein directs the formation: la proteina induce/presiede la
formazione
To be affected: essere colpito
leading known cause: a quanto è dato sapere, è la causa
principale
Mental impairment: menomazione mentale
Mood swings: turbe/variazioni dell’umore
Tactile defensiveness: atteggiamento tattile difensivo
Do not make eye contact: evitano di incrociare lo sguardo
Touch: contatto
Sound: rumore, suono
Delays at crucial points during the development of the
brain in the womb may explain why people with a
condition linked to autism do not like hugs.
A study in mice with fragile X syndrome found wiring in
the part of the brain that responds to touch is formed
late.
The findings may help explain why people with the
condition are hypersensitive to physical contact, the
researchers wrote in Neuron.
It also points to key stages when treatment could be
most effective.
Fragile X syndrome is caused by a mutant gene in the
X chromosome that interferes in the production of a
protein called fragile X mental retardation protein
(FMRP).
Under normal circumstances, the protein directs the
formation of other proteins that build synapses in the
brain.
Boys are usually more severely affected with the
condition - which is the leading known cause of autism
- because they have only one X chromosome.
In addition to mental impairment, hyperactivity,
emotional and behavioural problems, anxiety and mood
swings, people with fragile X also show what doctors
call "tactile defensiveness", which means they do not
make eye contact and do not like physical contact and
are hypersensitive to touch and sound.
Synapse
• Synapse: the site of functional
apposition between neurons,
where an impulse is transmitted
from one to another, usually by a
chemical neurotransmitter
released by the axon terminal of
the presynaptic neuron. The
neurotransmitter diffuses across
the gap to bind with receptors on
the postsynaptic cell membrane
and cause electrical changes in
that neuron
(depolarization/excitation or
hyperpolarization/inhibition).
Diagram of three
synapses. Nerve
impulse is indicated by
arrows, showing that the
direction of passage is
from the terminal
arborization (TA) or
nerve endings of the
axon of one neuron to
the dendrites (D) of
another neuron.