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Genetics of Huntington’s disease

Genetics of Huntington’s disease

The genetics of Huntington’s is unique in the way it affects each generation. The below infographic shows how it is inherited and why symptoms appear earlier in each generation

We all carry traits from our parents, be it height, eyes, or behaviours. On the flip side, we also inherit health conditions from our parents. Huntington’s disease is one such genetically inherited neurodegenerative condition that manifests between 30-40 years of age.

Huntington’s is caused by an erroneous repetition of a DNA sequence – CAG – in the gene HTT. Most people generally have around 30-36 repeats. However, when the repetitions exceed 40, it causes a drastic change in the protein called huntingtin.

The abnormal huntingtin protein clumps with other necessary proteins in the brain cells like sticky glue, interrupting cell function and eventually leading to the death of neurons.

Huntington’s is an autosomal dominant genetic disease and passes on from parent to child. So the next generation needs only one faulty gene to show symptoms.

Huntington's disease (HD) is an autosomal dominant genetic disease.1 faulty HTT gene from any parent can cause HD in the child. -CAG- repeat in HTT gene changes in huntingtin protein structure Causes misfolding and protein aggregation, and cell death. Penetrance: when CAG repeats increases with each generation, symptoms appear earlier
CAG repeats above 36 in the HTT gene is the cause of Huntington’s- an autosomal dominant genetic disease | Illustration by Varsha Vivek | Canva | Protein image credits: Jawahar Swaminathan and MSD staff at the European Bioinformatics Institute

Read more: Signs to look for in Huntongton’s disease

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