Author/Authors :
Kömürcü-Bayrak, Evrim Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Poda, Mehveş Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Güven, Gamze Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Güçlü-Geyik, Filiz Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Çoban, Neslihan Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Güleç, Çağrı Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Abacı, Neslihan Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Akbaş, Fahri Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey , Akbaş, Fahri Bezmiâlem Vakıf Üniversitesi - Tıp Fakültesi - Tıbbi Biyoloji Anabilim Dalı, Turkey , Erginel-Ünaltuna, Nihan Istanbul Üniversitesi - Deneysel Tıp Araştırma Enstitüsü - Genetik Anabilim Dalı, Turkey
Abstract :
Background and aim: Huntington Disease (HD) is an autosomal dominant hereditary neurodegenerative disease of midlife onset that produces choreic movements and cognitive decline, often accompanied by psychiatric changes. Because there are no effective neuroprotective therapies that delay the progression of the disease, it is treated only symptomatically. It affects approximately 1 in 10,000 individuals. However, the prevalence of this disease in Turkey is still unknown. The expanded CAG repeats (n 36) in exon 1 of the IT-15 gene account for 99% of cases of HD. In this article, recently published guidelines together with the translation of the 2004 guideline for Huntington Disease Testing, as well as our departmental applications in HD molecular testing and results are available. Thus, our departmental procedures and results in HD genetic testing are presented in order to contribute on the management of this disease in Turkey. Material and methods: The results of the performed HD testing (PCR-based strategy) in our laboratory since 15 years were evaluated according to age, sex and the number of CAG repeat. Accordingly, we retrospectively investigated in 677 patients applied HD genetic testing between January 2000 and June 2015 in Istanbul University, Institute of Experimental Medicine, Department of Genetics. Results: We obtained positive results for HD testing from 413 patients, who were 207 men (50.1%), 206 women (49.9%) and the mean age 46.1±13 years (range; 14-86). The CAG repeat number in the in 2.7% of patients were between 36-39 repeats (n=ll), which is known as to have reduced penetrance in 20.8% of patients (n = 86) 50 repeat and in other patients (n = 316) between 40 and 50 repeat. The 23 of the cases with normal alleles ( 36 repeats) applied HD testing were determined the mutable normal alleles between 27 and 35 repeat (referred to as the meiotic instability range). The eight patients (2%) of whole patients with mutant allele were identified as juvenile- onset HD ( 20 years). Discussion: HD genetic testing is applied in our department for a long time to the exclusion of other neurodegenerative diseases with similar clinical symptoms and disease risk assessment.
