Study says non-genetic factors can play a large role in mortality risk | CAG recurrence not associated with risk of Huntington’s death: a study

A larger number of CAG is iterated within a file htt gene – the genetic cause of Huntington’s disease A study showed that it is associated with early disease onset and death, but it is not an independent predictor of death in people with neurodegenerative disease.

These findings indicate that “non-genetic factors contribute to mortality and warrant further investigation,” the researchers wrote.

No significant differences were found in terms of sex, age at onset of symptoms, or functional and cognitive performance between living and deceased Huntington’s patients.

Larger studies are needed to confirm these findings and identify risk factors for death in people with Huntington’s disease – particularly for female patients, who were shown in this study to have the highest risk of death.

the study, “Huntington’s disease: mortality and risk factors in an Australian cohort“in Journal of Neuroscience.

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More CAG repeats associated with onset of early motor symptoms and death

Huntington’s disease is a progressive neurodegenerative disorder characterized by it symptoms like Uncontrolled movements, loss of cognitive function, and psychological problems. Patients also show gradual shrinkage, or atrophy, of an area of ​​the brain known as the basal ganglia, which is responsible for coordinating movement.

The The cause of the disease Excessive repeats of a segment of DNA, called CAG triplets, are inside htt gene. Normally healthy people have between 10 and 35 CAG repeats, but people with Huntington’s disease may have 36 to 120. A higher number of CAG repeats has been linked to earlier onset of motor symptoms and a younger age at death.

However, when confusion is possible [influencing] Taking into account factors such as cardiovascular disease, the researchers wrote, the association between CAG repeat length and age at death was not significant.

Now, a team of researchers in Australia has evaluated whether CAG length recurrence, age of onset, and basal ganglia atrophy are risk factors for death in people with Huntington’s disease.

They retrospectively analyzed the medical records of 83 people (51 women and 32 men). He was diagnosed with Huntington’s disease who were admitted to the Department of Neuropsychiatry at the Royal Melbourne Hospital between 1992 and 2014. The records contained demographic, clinical and brain imaging data.

Non-genetic factors contribute to mortality and warrant further investigation

Patients had a six-fold higher risk of death than the general population

Cognitive function was assessed using the Cognitive Assessment Tool Mini-Mental State Examination and Neuropsychological Unit, while function was assessed with the Global Assessment of Functions.

More than half of the patients (54.2%) were of Oceanian/Northwestern European descent, and had a mean age of 41 years at onset of symptoms, and 48 years at admission. The number of CAG repeats was available for 73 patients, who had a mean of 44 repeats.

Functional and cognitive impairment were moderate, and cerebral atrophy was present. Psychiatric/behavioral problems were the most common first symptom (43.5% of patients), followed by motor symptoms (36.2%), and cognitive deficits (20.3%). More than half of the patients do not drink, smoke, or report risk factors for heart disease.

A total of 44 patients (53%) died during the period evaluated, with a mean age of 59 years. Huntington’s was the leading cause of death (83.7%), with respiratory symptoms listed as a common secondary cause.

Median survival after onset of symptoms was 18.8 years. Huntington’s patients had an approximately six-fold higher risk of death than the general population in Australia, with this risk twice as high in female patients as in male patients (8.3 versus 4.2 increased risk).

Notably, patients between the ages of 50 and 69 were more than nine times more likely to die compared to the general population.

While longer CAG repeat lengths were significantly associated with earlier disease onset and death, no significant difference was found in CAG repeat lengths and age of symptom onset between living and deceased patients.

The researchers also found no significant differences in terms of gender, initial symptoms, functional ability, cognitive function, cardiovascular risk factors, alcohol consumption, or tobacco use between these groups.

However, the deceased patients had significantly more cerebral atrophy than the living patients. In addition to patients Living with Huntington They were more likely to have a personal and family history of psychiatric problems and a family history of dementia than deceased patients.

The team wrote: “These findings may be explained by early participation in psychological and health services with ongoing support and care by individuals who are aware of their psychological and family history and that our sample was biased by being a neuropsychiatric service compared to a neurology service.”

Additional statistical analyzes that consider individual factors showed that length of CAG recurrence, age of disease onset, type of initial presentation symptoms, and brain atrophy were not predictive of mortality in patients.

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Epigenetics and lifestyle may more clearly influence disease progression

These findings suggest that “while the length of CAG repeats is closely related to the age of onset of symptoms, there may be other factors that more prominently influence symptom development and death such as epigenetics and lifestyle factors,” the team wrote.

Epigenetic factors refer to chemical modifications to DNA that affect gene activity without altering the underlying DNA sequence.

“The results of this study can be used to support health care services and future directions for research in this area,” the researchers wrote, adding that “the relatively long survival time emphasizes the preservation of quality of life with symptoms of HD.” [Huntington’s disease] Decisive.”

The researchers highlighted some limitations of the study, including the small sample size and retrospective nature. They also indicated that the participants were recruited from a specialized center and most of them had psychological or behavioral problems.

The team writes that more studies are needed to confirm these findings and provide a “comprehensive understanding of risk factors for HD mortality beyond genetic findings.”

The researchers concluded that this may help Huntington’s patients “adopt beneficial lifestyle changes to improve function and improve quality of life while living with this disease.”

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