2. CONTENTS IN THIS PRESENTATION
• COULD ELECTROSTIMULATION WORK AS A CURE FOR
ALZHEIMER’S?
• HUNTINGTON’S DISEASE AND EPIGENETICS
• PARKINSON’S DISEASE
• MOTOR NEURONS DISEASE
• EPILEPSY
3. COULD ELECTROSTIMULATION WORK AS A
CURE FOR ALZHEIMER’S?
MY ESSAY TAKES THE CURRENT KNOWLEDGE OF THE CAUSE OF ALZHEIMER’S
DISEASE (AD) AND COMPARES THE RESULTS FROM ELECTROSTIMULATION
TREATMENT TO OTHER, MORE COMMON THERAPIES.
BY LOOKING INTO THE BRAIN MECHANISMS THAT ARE AFFECTED BY AD AND HOW
THIS TREATMENT TARGETS THEM, I WILL STATE THE ADVANTAGES AND
DISADVANTAGES OF ELECTROSTIMULATION. RESULTS FROM RECENT CLINICAL
TRIALS WILL ALSO BE USED TO BACK MY ARGUMENTS.
I WILL CONCLUDE WITH WHETHER I BELIEVE ELECTROSTIMULATION WILL GO
BEYOND SLOWING THE PROGRESSION OF AD AND FUNCTION AS A POSSIBLE CURE.
4. HUNTINGTON’S DISEASE AND EPIGENETICS
• WHAT IS HUNTINGTON’S DISEASE?
USUALLY BEGINS TO SHOW EFFECTS IN ADULTS BETWEEN 30 AND 45
AFFECTS BASAL GANGLIA
CAUSED BY CAG REPEAT EXPANSION IN THE HUNTINGTIN GENE
MUTANT HUNTINGTIN CAUSES DEATH OF NEURONES
• WHAT IS EPIGENETICS?
EPIGENETICS LITERALLY MEANS ‘ABOVE’ GENETICS, I.E. WHAT CONTROLS GENE EXPRESSION
ACETYLATION AND METHYLATION
• HOW ARE THEY LINKED?
DEACETYLATION OF HISTONE H3 IN SUFFERERS-> HDAC INHIBITOR TREATMENT CAN BE USED TO CORRECT THIS
DNA METHYLATION-> ERNEST FRAENKEL AND HIS COLLEAGUES TESTED THE DEGREE OF METHYLATION AT 97,006 CYTOSINES
IN STHDHQ111 AND STHDHQ7, FINDING 61,940 BASES HAD DECREASED METHYLATION AND 33,974 BASES HAD INCREASED
METHYLATION IN STHDHQ111 IN COMPARISON TO STHDHQ7.
HDAC INHIBITOR FAVOURITE FOR TREATMENT
H h
h Hh hh
h Hh hh
H
h
h
h
5. PARKINSON’S DISEASE
The most common symptoms in the early stages of
Parkinson's include;
• Tremors
• Rigidity
• Akinesia: Lack of movement.
• Bradykinesia: slowness of movement with difficulty of initiating and/or stopping movement.
These symptoms may not be visible at all times they can vary and change in time.
The secondary symptoms include
• Depression- mainly comes from the patient becoming frustrated with the physical disability.
• Speech difficulties
• Dizziness
6. MOTOR NEURONS DISEASE
The image shows a healthy and a
diseased motor neuron. The
diseased one is breaking down
meaning the muscle cannot receive
signals from the brain. Without the
signals the muscle cannot function
and weakens.
What is motor neurons diseases?
The disease only attacks the motor neurons which are one of three types of
neuron in the brain. It mainly affects the upper motor neurons that are
located in the motor section of the brain close to the brainstem.
All adults can get this disease. People over 40 normally get diagnosed but
most symptoms don’t start until age 60 which is is the most common age
for this condition.
Most people who have the disease don’t normally have any family members
that have also had it. 5% of people with the condition have a close family
member that has it or a linked disease such as frontotemporal dementia.
15%of MND cases are linked to frontotemporal dementia. It affects around
two people in a 100,000 in the uk every year. 5,000 people in the uk have
MND.
50% of people diagnosed have a life expectancy of between 3 to 10 years
from when the symptoms start. There are a few times when a person lives
longer than 10 years. There is no cure just treatments to slow the
progression and help with symptoms. NMD affects the ability of movements
due to the muscles breaking down. The process is not painful but causes
problems all around the body which can affect breathing and
communication.
7. EPILEPSY
EPILEPSY IS A CHRONIC NEUROLOGICAL DISORDER CHARACTERISED BY THE OCCURRENCE OF
ABNORMAL ELECTRICAL ACTIVITY IN THE BRAIN.
EPILEPSY HAS NO IDENTIFIABLE CAUSE FOR MANY PEOPLE, HOWEVER FOR MANY THE CONDITION
CAN BE CAUSED BY FACTORS SUCH AS:
• GENETIC INFLUENCE: CERTAIN GENES MAY MAKE A PERSON MORE SENSITIVE TO
ENVIRONMENTAL CONDITIONS THAT TRIGGER SEIZURES, BUT THERE IS NO SPECIFIC GENES THAT
CAUSES
• HEAD TRAUMA
• INFECTIOUS DISEASES: SUCH AS MENINGITIS, AIDS
• PRENATAL INJURIES (LACK OF OXYGEN, INFECTION FROM THE MOTHER DURING PREGNANCY)
SYMPTOMS:
• UNCONTROLLABLE JERKING MOVEMENTS OF THE ARMS AND LEGS (FITS)
• LOSS OF CONSCIOUSNESS OR AWARENESS
• ANY ABNORMAL ACTIVITY IN JUST ONE AREA OF YOUR BRAIN ARE CALLED FOCAL (PARTIAL)
SEIZURES & FALL INTO TWO CATEGORIES:
1) FOCAL SEIZURES WITHOUT LOSS OF CONSCIOUSNESS: THESE SEIZURES DON'T CAUSE A LOSS OF
CONSCIOUSNESS BUT ALTER EMOTIONS OR CHANGE YOUR SENSES. THEY CAN RESULT IN
INVOLUNTARY JERKING OF A BODY PART AND SPONTANEOUS SENSORY SYMPTOMS SUCH AS
TINGLING, DIZZINESS AND FLASHING LIGHTS.
2) FOCAL SEIZURES WITH IMPAIRED AWARENESS: THESE SEIZURES INVOLVE A CHANGE OR LOSS OF
CONSCIOUSNESS OR AWARENESS AND DO REPETITIVE MOVEMENTS, SUCH AS HAND RUBBING,
CHEWING, SWALLOWING OR WALKING IN CIRCLES.
TYPES OF SEIZURES THAT OCCUR IN THE BODY: ABSENCE SEIZURE, TONIC SEIZURES, ATONIC
Editor's Notes
Effects include irregular, involuntary muscle movement, and decline in cognitive ability
Can show effects in children and young adults
Basal ganglia organise motor movement
Normal amount of CAG lengths 6-36, 36-39 is abnormal with reduced penetrance, 40+ is complete penetrance
Methylation of cytosine causes genes to wrap more tightly around histones, meaning transcription factors can’t bind and the gene can’t be expressed.
Acetylation of histones remove positive charges, reducing the histone’s affinity with DNA, allowing transcription factors to bind.