Related Experiment Video

Updated: Aug 14, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Years of life lost due to Huntington disease

M B Jones

    American Journal of Human Genetics
    |November 1, 1979
    PubMed

    Insights

    Genetic diseases significantly reduce lifespan. This study reformulates the calculation of years of life lost to include genetic conditions from birth, not just causes of death, using Huntington disease as an example.

    Area of Science:

    • Genetics
    • Epidemiology
    • Public Health

    Background:

    • Genetic diseases cause significant premature mortality.
    • Current methods calculate years of life lost (YLL) based solely on causes of death.
    • Genetic conditions represent a lifelong risk, impacting health from birth.

    Purpose of the Study:

    • To reformulate the concept of YLL for genetic diseases.
    • To extend YLL calculation to genetic conditions with delayed onset.
    • To demonstrate the application of the reformulated YLL concept using Huntington disease (HD).

    Main Methods:

    • Review and critique of conventional YLL calculation methods.
    • Development of a reformulated YLL framework for genetic conditions.
    • Application of the framework to Huntington disease as a case study.

    Main Results:

    • Conventional YLL calculation is insufficient for genetic diseases.
    • A reformulated YLL approach accounts for lifelong risk associated with genetic conditions.
    • The proposed method provides a more accurate measure of disease burden for conditions like HD.

    Conclusions:

    • The concept of YLL requires adaptation for genetic diseases, especially those with delayed onset.
    • Reformulating YLL to consider the condition from birth onwards offers a more comprehensive understanding of disease impact.
    • This approach enhances the assessment of public health burdens posed by genetic disorders.

    More Related Videos

    Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice08:27

    Single Synapse Indicators of Glutamate Release and Uptake in Acute Brain Slices from Normal and Huntington Mice

    Published on: March 11, 2020

    Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System10:52

    Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

    Published on: December 10, 2021

    Related Concept Videos

    Genetic Lingo01:11

    Genetic Lingo

    Overview
    Lethal Alleles02:41

    Lethal Alleles

    Agouti: A Lethal Allele
    Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
    Parkinson's Disease: Overview01:15

    Parkinson's Disease: Overview

    Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...
    Alzheimer Disease l: Introduction01:29

    Alzheimer Disease l: Introduction

    Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
    Parkinson Disease l: Introduction01:24

    Parkinson Disease l: Introduction

    Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...
    Huntington Disease l: Introduction01:21

    Huntington Disease l: Introduction

    Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...