Huntingtons Disease

Huntington disease is a brain disorder caused by the mutation of HTT gene. The disease is usually diagnosed in a persons thirties or forties. It is characterized by cognition loss, emotional problems, and uncontrolled movements.

Medical Condition

• Emotional & mental problems
• Poor mind-body coordination
• Involuntary jerking or twitching
• Slurred speech
• Seizures

Genetic Changes

• HTT gene provides code for making a protein called huntingtin. Although the protein function is unknown it appears to play a major role in controlling the brain cells in the brain
• HTT mutation causes CAG trinucleotide repeats responsible for disease progression
• Individuals with CAG repeats of 10-35 dont develop the disease as opposed to people with 40 or more CAG repeats
• An increase of the CAG repeat segment leads to the production of the abnormally long version of the huntingtin protein which leads to the death of the neurons

Treatment

No specific treatment as it is a genetic disorder with high morbidity.

• Bone Marrow transplantation
• Blood transfusion
• Enzyme replacement therapy
• Gene therapy

Solution

• Genetic screening can identify single gene disorders
• Early prognosis can prevent such diseases
• Remedial & personalized medicine can change the outcome
• Doctors can suggest alternatives for couples planning pregnancy

More information

At Aaranya Biosciences we use Next Generation Sequencing (NGS) to analyze single gene disorders. Our screening test with NGS has an accuracy of 99%.