Huntington's disease is an autosomal dominant disorder caused by mutations in thehuntingtin (HTT) gene on chromosome 4, characterized by unstable CAG repeats leading to neurodegeneration, with symptoms like chorea and dementia typically appearing around age 40.
La enfermedad de Huntington es un trastorno autosómico dominante causado por mutaciones en el gen HTT del cromosoma 4, caracterizado por repeticiones CAG inestables que causan neurodegeneración, con síntomas como corea y demencia que suelen manifestarse alrededor de los 40 años.
| Original | Huntingtin (HTT) gene on chromosome 4 possesses a repeating trinucleotide sequence (CAG) that is usually present in low amounts (10 – 25 repeats) more than 28 CAG repeats is unstable and causes the sequence to amplify (produce even more repeats) once the number of repeats exceeds ~40, the huntingtin protein will misfold and cause neurodegeneration develop noticeably in a person’s middle age (~40 years) as this occurs in late adulthood chorea and dementia |
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| Title | Huntington’s disease is an autosomal dominant disorder caused by a mutation to the ... It ... but ... and ... symptoms usually ... and include |
| Settings | 1,1,0 | n,n,n,n |
| Text1 | Huntingtin (HTT) gene on chromosome 4 ... ... ... ... ... |
| Text2 | Huntingtin (HTT) gene on chromosome 4 possesses a repeating trinucleotide sequence (CAG) that is usually present in low amounts (10 – 25 repeats) ... ... ... ... |
| Text3 | ... possesses a repeating trinucleotide sequence (CAG) that is usually present in low amounts (10 – 25 repeats) more than 28 CAG repeats is unstable and causes the sequence to amplify (produce even more repeats) ... ... ... |
| Text4 | ... ... more than 28 CAG repeats is unstable and causes the sequence to amplify (produce even more repeats) once the number of repeats exceeds ~40, the huntingtin protein will misfold and cause neurodegeneration ... ... |
| Text5 | ... ... ... once the number of repeats exceeds ~40, the huntingtin protein will misfold and cause neurodegeneration develop noticeably in a person’s middle age (~40 years) as this occurs in late adulthood ... |
| Text6 | ... ... ... ... develop noticeably in a person’s middle age (~40 years) as this occurs in late adulthood chorea and dementia |
| Full | Huntingtin (HTT) gene on chromosome 4 possesses a repeating trinucleotide sequence (CAG) that is usually present in low amounts (10 – 25 repeats) more than 28 CAG repeats is unstable and causes the sequence to amplify (produce even more repeats) once the number of repeats exceeds ~40, the huntingtin protein will misfold and cause neurodegeneration develop noticeably in a person’s middle age (~40 years) as this occurs in late adulthood chorea and dementia |
Tags: 3_4_inheritance, huntingtons
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