Huntingtons Disease

Question 1

Who may become affected?

Answer 1

• Individuals with more than 36 repeats (CAG repeats) in HD gene
• Individuals risk of inheriting the expanded CAG gene
• Positive family history (it is passed to child trough modulation in gene (CAG expansions))
• Parent having HD, or are carriers of that mutation
• De novo mutation

Question 2

How it is diagnosed?

Answer 2

• Generally the diagnosis of HD is based on findings from neurological, psychological and genetic testing.
• Neurological (rule out of other conditions and obtain family history)
• Genetic testing is most accurate and effective method. Its counts the number of CAG repeats in HD gene

Question 3

What are early signs of HD?

Answer 3

• Depression
• Small involuntary movements
• Trouble learning new information
• Poor coordination

Question 4

Is it inherited?

Answer 4

90% hereditary, 10% de novo mutations. Autosomal dominant pattern. HTT gene is passed from generation to another

Question 5

Basic mechanism?

Answer 5

• In molecular level not fully understood
• Disorder of molecular misfolding
• HD is caused by CAG trinucleotide repeat expansion in HTT-gene. This gene mutation encodes on abnormally long glutamate tract in the huntigton protein

Question 6

Treatment?

Answer 6

• There are novel and promising approaches and drug screening for reducing expression of mutant HTT
• Gene therapy, stem cell therapy
• Invariably fatal disease
• Blueberries improve survival in cell that is expressing mHTT