A BS TRACT: Background: The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European populations. Objective: To identify the prevalence and genetic structure of hereditary ataxias in the Turkish population. Methods: Our cohort consisted of 1296 index cases and 324 affected family members. Polymerase chain reaction followed by Sanger sequencing or fragment analysis were performed to screen for the trinucleotide repeat expansions in families with a dominant inheritance pattern, as well as in sporadic cases. The expansion in the frataxin (FXN) gene was tested in all autosomal recessive cases and in sporadic cases with a compatible phenotype. Whole-exome sequencing was applied to 251 probands, selected based on the family history, age of onset, and phenotype.Results: Mutations in known ataxia genes were identified in 30% of 1296 probands. Friedreich's ataxia was found to be the most common recessive ataxia in Turkey, followed by autosomal recessive spastic ataxia of Charlevoix-Saguenay. Spinocerebellar ataxia types 2 and 1 were the most common dominant ataxias. Whole-exome sequencing was performed in 251 probands with an approximate diagnostic yield of 50%. Forty-eight novel variants were found in a plethora of genes, suggesting a high heterogeneity. Variants of unknown significance were discussed in light of clinical data. Conclusion:With the large sample size recruited across the country, we consider that our results provide an accurate picture of the frequency of hereditary ataxias in Turkey.

The last decade has proven that amyotrophic lateral sclerosis (ALS) is clinically and genetically heterogeneous, and that the genetic component in sporadic cases might be stronger than expected. This study investigates 1,200 patients to revisit ALS in the ethnically heterogeneous yet inbred Turkish population. Familial ALS (fALS) accounts for 20% of our cases. The rates of consanguinity are 30% in fALS and 23% in sporadic ALS (sALS). Major ALS genes explained the disease cause in only 35% of fALS, as compared with ~70% in Europe and North America. Whole exome sequencing resulted in a discovery rate of 42% (53/127). Whole genome analyses in 623 sALS cases and 142 population controls, sequenced within Project MinE, revealed well‐established fALS gene variants, solidifying the concept of incomplete penetrance in ALS. Genome‐wide association studies (GWAS) with whole genome sequencing data did not indicate a new risk locus. Coupling GWAS with a coexpression network of disease‐associated candidates, points to a significant enrichment for cell cycle‐ and division‐related genes. Within this network, literature text‐mining highlights DECR1, ATL1, HDAC2, GEMIN4, and HNRNPA3 as important genes. Finally, information on ALS‐related gene variants in the Turkish cohort sequenced within Project MinE was compiled in the GeNDAL variant browser (http://www.gendal.org).

Özet: Bu çalışmada, mikroalglerden Chlorella vulgaris Beyerinck (Beijerinck), Porphyridium cruentum (S.F.Gray) Nageli ve Haematococcus pluvialis Flotow ve makroalglerden Ulva lactuca Linnaeus ve Gracilaria gracilis (Stackhouse) M.Steentoft, L.M.Irvine & W.F.Farnham türlerinden pigment ekstraksiyonu gerçekleştirilmiş ve elde edilen pigmentlerin tekstil sanayiinde doğal boyar madde olarak kullanımı konusunda verimliliği araştırılmıştır. Kulanılan türlerden üç farklı çözgen aracılığıyla pigment ekstraksiyonu gerçekleştirilmiş ve her ekstrakt için 4 farklı mordanlama kimyasalı kullanılmıştır. Boyama işleminde yün iplikten faydalanılmıştır. Boyanan iplikler ışık haslığına göre değerlendirilmiştir. İplik boyamada en etkili olan türlerin U. lactuca ve G. gracilis olduğu tespit edilmiştir. En iyi mordanlama ise CuSO4, FeSO4 kimyasalları ile gerçekleştirilmiştir.

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The cover image is based on the Data Article Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database by Ceren Tunca et al., https://doi.org/10.1002/humu.24055.