Badania rodzinno-genetyczne i badania funkcji poznawczych w chorobie afektywnej dwubiegunowej: związek z efektem profilaktycznym węglanu litu

• Authors: Agnieszka Permoda-Osip , Janusz Rybakowski

Title variants

EN

Familial and genetic examinations and cognitive function studies in bipolar affective disease: correlation with preventive effects of lithium carbonate

• Languages of publication: PL EN

Abstracts

PL

Choroba afektywna dwubiegunowa charakteryzuje się nawracającymi epizodami afektywnymi, depresyjnymi i maniakalnymi. Jej rozpowszechnienie po uwzględnieniu występowania stanów hipomaniakalnych o różnym nasileniu może sięgać 5% populacji. Udział czynników genetycznych w etiopatogenezie tej choroby jest znaczny. Zostało to wykazane na podstawie badań rodzinnych, badań bliźniąt oraz badań adopcyjnych. Badania genetyczno-molekularne wykonywane metodą analizy sprzężeń i analizy genu kandydującego pozwalają na ustalenie roli poszczególnych genów w patogenezie tego schorzenia. Podstawowymi preparatami stosowanymi w chorobie afektywnej dwubiegunowej są leki normotymiczne, z których najważniejszymi są sole litu. Mechanizm działania litu wiąże się głównie z jego wpływem na przekaźnictwo wewnątrzkomórkowe i stymulację procesów neuroplastyczności. U pacjentów z chorobą afektywną dwubiegunową występują zaburzenia funkcji poznawczych, zwłaszcza w okresie ostrego epizodu choroby. Leki psychotropowe, w tym również leki normotymiczne (np. sole litu) mają na te funkcje wpływ. Wysunięto hipotezę, że długotrwałe stosowanie litu może zapobiegać zaburzeniom neurokognitywnym w starszym wieku. Grupa pacjentów ze znakomitym efektem profilaktycznym litu może stanowić endofenotyp kliniczny do badań genetyczno-molekularnych choroby afektywnej dwubiegunowej. W ostatnim okresie pojawiły się prace wskazujące na różnice w zakresie osobowości, profilu afektywnego i funkcji poznawczych u potomstwa osób cierpiących na zaburzenia afektywne, u których występuje dobry lub słaby efekt terapeutyczny węglanu litu. W ośrodku poznańskim planujemy ocenę kliniczną funkcji poznawczych oraz badania genetyczno-molekularne u potomstwa pacjentów z chorobą afektywną dwubiegunową z różnym działaniem profilaktycznym węglanu litu.

EN

Bipolar affective illness is characterized by recurrent affective episodes, depressive and manic. The prevalence of bipolar affective illness, including hypomanic states of various intensity, can amount to 5% of the population. The role of genetic factors in the aetiopathogenesis of bipolar illness is substantial. This was demonstrated in family, twin and adoption studies. Molecular-genetic studies done by the methods of linkage and candidate gene analysis allow for establishing a potential role of individual gene. The basic drugs used in bipolar affective illness are mood-normalizing drugs, among which lithium salts are the most important. Mechanism of lithium action is connected with its influence in intracellular signalling and with stimulation of neuronal plasticity. In patients with bipolar disorders, cognitive disturbances occur, especially during an acute episode of the illness. Psychotropic drugs, including mood-normalizing ones, such as lithium salts, influence cognitive function. A hypothesis was advanced that long-term lithium administration can prevent neurocognitive disturbances in old age. A group of “excellent lithium responders” may constitute a clinical endophenotype for molecular-genetic studies of bipolar affective illness. In recent years, the studies appeared pointing on differences in personality, affective profile and cognitive functions in the offspring of patients with affective disorders showing good or poor prophylactic effect of lithium. In Poznań centre we plan a clinical and cognitive function assessment as well as molecular-genetic studies in the offspring of patients with bipolar affective illness with variable prophylactic effect of lithium.

Keywords

EN

bipolar affective illness; czynniki genetyczne; działanie profilaktyczne; genetic factors; lithium salts; offspring of lithium--treated patients; potomstwo osób leczonych litem; prophylactic effect; sole litu; zaburzenia afektywne dwubiegunowe

Discipline

• MEDICINE: MEDICINE

• Publisher: Medical Communications
• Journal: Psychiatria i Psychologia Kliniczna
• Year: 2005
• Volume: 5
• Issue: 3
• Pages: 137-143

Contributors

author

Agnieszka Permoda-Osip

• Klinika Psychiatrii Dorosłych Akademii Medycznej w Poznaniu. Kierownik Kliniki: prof. dr hab. n. med. Janusz Rybakowski

author

Janusz Rybakowski

• Klinika Psychiatrii Dorosłych Akademii Medycznej w Poznaniu. Kierownik Kliniki: prof. dr hab. n. med. Janusz Rybakowski

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• Document Type: article