Susceptibilidade genética e impacto social da surdez associada à idade
Susceptibilidade genética e impacto social da surdez associada à idade
Presbycusis or age-related hearing loss (ARHL) is the most common sensory impairment in the elderly, often leading to social isolation and diminished quality of life, and affecting millions of people worldwide. ARHL is a multifaceted common phenomenon, with a broad spectrum of causes, bot h environment al and genetic, and cognitive and psychosocial consequences. Genetic susceptibility associated with presbycusis implies that ARHL isn't an inevitable condition, but a complex disease with possible treatment and prevent ion. This assumption, combined with the few information still existing about the epidemiology of hearing loss in elderly people and about the manifestation of several etiological factors for this condition, justifies the relevance of the project here proposed.
Previous studies found an association between presbycusis and some genes involved in hereditary deafness - GJB2 and KCNQ4 - or in oxidative metabolism - NAT2, GSTM1, GSTT1, GRHL2 and GRM7. I n t he mitochondrial DNA, t he 4977bp deletion, and haplogroups U and K, have also been associated with presbycusis.
The increase of the elderly population worldwide due to increased life expectancy, highlight s the importance of studies on presbycusis.
The general aim of this study is the identification of epidemiological and etiological factors associated with ARHL in a sample of elder Portuguese individuals (n≈ 1000) through the establishment of statistically significant genotype - phenotype correlations found in this sample. Specific objectives will include:
a) Hearing screening by perform epidemiological and etiological studies of the individuals from our sample;
b) Genetic screening, by determining the prevalence in the Portuguese elderly population of variant s in genes/loci previously associated with ARHL in other populations;
c) Phenotype-genotype correlation by studying the association between the genetic variant s found and the epidemiological and etiological factors identified on the elderly individuals with presbycusis;
d) Study of the social dimensions of presbycusis, and the sociodemographic description of the elderly individuals of the sample by applying a questionnaire that also considers the processes of aging, uses of the time, occupations, and social networks.
Genetic risk, Age-related hearing impairment, Social isolation
Presbycusis or age-related hearing loss (ARHL) is the most common sensory impairment in the elderly, often leading to social isolation and diminished quality of life, and affecting millions of people worldwide. ARHL is a multifaceted common phenomenon, with a broad spectrum of causes, bot h environment al and genetic, and cognitive and psychosocial consequences. Genetic susceptibility associated with presbycusis implies that ARHL isn't an inevitable condition, but a complex disease with possible treatment and prevent ion. This assumption, combined with the few information still existing about the epidemiology of hearing loss in elderly people and about the manifestation of several etiological factors for this condition, justifies the relevance of the project here proposed.
Previous studies found an association between presbycusis and some genes involved in hereditary deafness - GJB2 and KCNQ4 - or in oxidative metabolism - NAT2, GSTM1, GSTT1, GRHL2 and GRM7. I n t he mitochondrial DNA, t he 4977bp deletion, and haplogroups U and K, have also been associated with presbycusis.
The increase of the elderly population worldwide due to increased life expectancy, highlight s the importance of studies on presbycusis.
The general aim of this study is the identification of epidemiological and etiological factors associated with ARHL in a sample of elder Portuguese individuals (n≈ 1000) through the establishment of statistically significant genotype - phenotype correlations found in this sample. Specific objectives will include:
a) Hearing screening by perform epidemiological and etiological studies of the individuals from our sample;
b) Genetic screening, by determining the prevalence in the Portuguese elderly population of variant s in genes/loci previously associated with ARHL in other populations;
c) Phenotype-genotype correlation by studying the association between the genetic variant s found and the epidemiological and etiological factors identified on the elderly individuals with presbycusis;
d) Study of the social dimensions of presbycusis, and the sociodemographic description of the elderly individuals of the sample by applying a questionnaire that also considers the processes of aging, uses of the time, occupations, and social networks.






