UNDERSTANDING HUNTINGTON’S

Group 9
Shaivya Singh, Hinal Kadiwala, Harini Reddy Sanugommula, Bhavika Katyal, Khurshid Jahan, Devi Niveditha Rajkumar

Huntington’s disease is a neurological condition. It is an inherited disease that results from faulty genes. Toxic proteins collect in the brain and cause
damage, leading to neurological symptoms. As the disease affects different parts of the brain, it impacts movement, behavior, and cognition. It
 
becomes harder to walk, think, reason, swallow, and talk. Eventually, the person will need full-time care. The complications are usually fatal. [1]
[3] [4]

PATHOPHYSIOLOGY
HD is caused by a faulty gene in chromosome 4
(IT-15).
People with HD have a ‘Molecular shutter’ of
three nucleotides (CAG) located in exon 1. The
normal number of CAG repeats is 9 to 30.Over
39 is considered defective and some patients
may have as many as 100 CAG repeats. [2]

 
[5]

   

[6] REFERENCES

 INTERESTING FACTS: [7] 1:https://www.medicalnewstoday.com/articles/15955

• 30,000 people in the US 2#symptoms
have this disease 2:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC129
9150/
• It reduces the weight of the
3:https://europepmc.org/article/pmc/pmc5495055
ETIOLOGY Brain. 4:https://www.verywellhealth.com/huntington-s-
When a parent has an autosomal dominant • A family in Lake Maracaibo disease-diagnosis-5089748
condition, there is a 50% chance they will has 18,000 members 5:https://treat-nmd.org/autosomal-dominant-
have a child affected with the same affected by the disease inheritance/
condition, and a 50% chance the child will 6:https://www.gene.com/stories/understanding-
receive their healthy copy of the gene and be huntingtons-disease?topic=neuroscience
Difference in structure of Brain 7:https://www.pinterest.ca/pin/690317449111913844
unaffected. Sometimes autosomal dominant
/?d=t&mt=login
conditions start for the first time in a child, MYTHS: [8] 8:https://www.hopkinsmedicine.org/psychiatry/specia
that is, it is not inherited from the parent but • HD is a male disease. lty_areas/huntingtons_disease/patient_family_resour
that child can pass the condition down to • HD can skip generations. ces/myths_about_HD.html
For more information!!
their future child
https://youtu.be/rcFlo2fDMMs
 UNDERSTANDING HUNTINGTON’S
Group 9
Shaivya Singh, Hinal Kadiwala, Harini Reddy Sanugommula, Bhavika Katyal, Khurshid Jahan, Devi Niveditha Rajkumar

ALTERNATIVE TREATMENT CELL REPLACEMENT THERAPY

DISEASE
SYMPTOMATI SYPTOMATIC
MODIFYING
C THERAPIES THERAPIES
THERAPIES

MOTOR BEHAVIOUR IMMUNO

SYMPTOMS SYMPTOMS BASED

Antidepress Minocyclin
Tetrabenazin
ant
e e
Amantadine
Antipsychoti
cs Antibodies

PSC technology has made it possible to

Physical Examination generate in vitro brain organoids or subtype
They will look for twitches and specific neuronal populations related to HD,
jerking as well as problems with such as MSNs, from HD patients’ fibroblasts,
your balance, reflexes and CHALLENGES OF STEM CELL thus enabling the study of the
coordination THERAPY neurodevelopmental aspects of HD, as well as
Brain imaging and function: drug screening. Direct reprogramming of
So to assess the scope and scale of brain (i) Determining the most ideal cell type patients’ fibroblasts to induced-MSNs (iMSNs)
cell damage and loss of brain tissue, for transplantation facilitated the study of late onset HD
imaging techniques such as MRI,CT,PET (ii) Safety issues relating to cell pathogenesis, since iMSNs retain age-related
are recommended. transplantation signatures.
Genetic test: (iii) The mechanisms by which the  (B) In vivo regenerative approaches as possible
These tests can rule out the presence or transplanted cells differentiate into therapeutic strategies, including transplantation
absence of genetic conditions in patients' correct cell types and integrate with of iMSNs or direct reprogramming of resident
life. host cells glial cells into induced neurons in the striatum,
(iv) The migration of transplanted cells. remain to be further explored. On the other
hand, neuroprotective approaches have been
more extensively explored aiming either at
targeting REST complex activity, or at the
restoration of BDNF levels, lipid metabolic
pathways or mitochondrial function.
LEARN MORE!!
 CONTRIBUTION

SHAIVYA SINGH - Pathophysiology, Editing and Assembling

HINALBEN KADIWALA - Signs and Symptoms

HARINI REDDY SANUGOMMULA -  Pathophysiology

BHAVIKA KATYAL - Difference in str. of Brain, Editing

KHURSHID JAHAN - Interesting facts and Myths

DEVI NIVEDITHA RAJKUMAR - Etiology