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KMID : 1024720110010010034
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Geriatric Rehabilitation
2011 Volume.1 No. 1 p.34 ~ p.43
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Clinical Manifestations and Genetic Phenotype of Frailty
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Lee Ho-Jun
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Abstract
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Clinical manifestations and definitions of frailty syndrome were various. The author described clinical manifestations and genetic phenotypes of frailty syndrome reported in many cohort studies. The most commonly used definition is Fried model, which contains five phenotypes (shrinking, weakness, poor endurance, slowness, low physical activity). Other definitions are Frailty index (based on concept of deficit accumulation), Study of Osteoporotic Fractures (SOF) frailty index and clinical frailty scale. Representative symptoms of frailty are same with phenotype of Fried criteria and those were reported as predictors of adverse outcomes (hospitalization, fracture, death). Associated factors with frailty were increased age, female gender, obesity, race, comorbidity, cognitive impairment and depressive mood. Social factors associated with frailty were low income, younger age of leaving education, not owning/mortgaging one’s home and reduced car availability in England. Southern countries such as Italy and Spain are associated with higher prevalence of frailty in Europe. Mitochondrial dysfunction, increased free radical, telomere shortening, decreased repair of DNA and cell senescence were suggested as genetic factors in pathophysiology of frailty. Some studies were reported about the relation with genes and frailty phenotypes. Mitochondrial genetic variation (mt228) was associated with frailty and lower grip strength. Telomere length was reported not correlated with frailty index. Some studies reported that genotypes and haplotypes related with inflammation and neuroendocrine dysfunction, considered as major pathophysiology of frailty, had little association with frailty. Some genes were reported to have negative association with successful aging, but no definite association with frailty syndrome yet.
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KEYWORD
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Frail elderly, Genetic, Phenotype
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