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Titolo:
Anticipation, imprinting, trinucleotide repeat expansions and psychoses
Autore:
Ohara, K;
Indirizzi:
Natl Minami Hanamaki Hosp, Clin Res Inst, Hanamaki, Iwate 0250033, Japan Natl Minami Hanamaki Hosp Hanamaki Iwate Japan 0250033 ate 0250033, Japan
Titolo Testata:
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
fascicolo: 1, volume: 25, anno: 2001,
pagine: 167 - 192
SICI:
0278-5846(200101)25:1<167:AITREA>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
BIPOLAR AFFECTIVE-DISORDER; POTASSIUM CHANNEL GENE; DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; CHILDHOOD-ONSET SCHIZOPHRENIA; EXPANDED CAG/CTG REPEATS; AGE-AT-ONSET; CAG REPEAT; NO EVIDENCE; SPINOCEREBELLAR ATAXIA; TRIPLET REPEAT;
Keywords:
anticipation; anxiety disorder; gene; imprinting; mood disorder; schizophrenia; trinucleotide repeat expansion disease; triplet;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
139
Recensione:
Indirizzi per estratti:
Indirizzo: Ohara, K Natl Minami Hanamaki Hosp, Clin Res Inst, 500 Suwa, Hanamaki, Iwate 0250033, Japan Natl Minami Hanamaki Hosp 500 Suwa Hanamaki Iwate Japan 0250033 n
Citazione:
K. Ohara, "Anticipation, imprinting, trinucleotide repeat expansions and psychoses", PROG NEUR-P, 25(1), 2001, pp. 167-192

Abstract

1. Since 1991, approximately 20 trinucleotide repeat expansion type neurodegenerative disorders have been reported. They are clinically characterizedby anticipation, i.e., worsening severity or earlier age at onset with each succeeding generation for an inherited disease, and imprinting, i.e., a process whereby specific genes are differentially marked during parental gametogenesis, resulting in the differential expression of these genes in the embryo and adult.2. The phenomenon of anticipation in psychoses has been pointed out since the 19th century; however, it was ignored because no one knew the genetic mechanism underlying this type of inheritance pattern at the time, and because of several possible biases.3. The discovery of trinucleotide repeat expansion diseases has reawakenedinterest in the phenomenon of anticipation in psychiatric diseases. Anticipation has been confirmed in schizophrenia, mood disorders, and anxiety disorders in much more sophisticated manners, although still not perfectly.4. Molecular approaches as well as clinical ones have been taken to revealthe involvement of trinucleotide repeat expansion mechanism in psychoses by means of direct analyses of candidate genes, RED and DIRECT. Most effortshave been made for CAG type trinucleotide repeats. So far, direct analyseshave failed to reveal pathogenic gene(s). There were several positive RED data at first, however, nowadays there seems to be a tendency of much more negative results. The DIRECT results did not support trinucleotide repeat expansions mechanism in psychoses either. One plausable explanation for the 'false positive' result is the presence of CAG trinucleotide repeats which are highly polymorphic but not associated with an obvious abnormal phenotype. Screening for trinucleotide repeats other than ones of the CAG type remained to be performed.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/03/20 alle ore 13:22:56