Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C&gt;G (p.Ser1175Cys)) variant in <i>PNPLA6</i> gene

Doğan, Mustafa; Eröz, Recep; Öztürk, Emrah

doi:10.1080/13816810.2021.1894461

Cited by 8 publications

(3 citation statements)

References 26 publications

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“…Geleneksel yöntemlerle çok sayıda etkilenmiş bireye sahip geniş aileler olmadan fenotipik ve genotipik heterojenite gösteren hastalıkların yeni nesil dizileme teknolojileri ile moleküler genetik temelinin ortaya konması mümkün hale gelmektedir. Yeni nesil dizileme teknolojileri ile HBA1 VE HBA2 genleri hızlı bir şekilde ve düşük maliyette analizi yapılabilmektedir (36)(37)(38)(39)(40)(41)(42)(43).…”

Section: Discussionunclassified

The Genotypes of α-Thalassemia and Genotypes Frequencies of α- Thalassemia in Western Aegean Region

Barış

YAVAŞ

Balasar³

et al. 2023

Sağlık Bilimlerinde Değer

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Amaç: Yaygın görülen bir tek gen hastalığı olan Alfa talasemi, α-globin zincirinin kusurlu sentezi ile ortaya çıkar. Globin genlerindeki bozukluklara bağlı olarak çok geniş bir klinik spektruma yayılan bu hastalıkta çok sayıda belirlenmemiş taşıyıcı olduğu düşünülmektedir. Klinik semptomu olmayan sessiz taşıyıcılardan, rahim içinde ölüme yol açan şiddetli anemi ile kendini gösteren, çok değişken bulgulara sahip genetik bir hastalıktır. Bu çalışmada bu amaçla alfa globin gen mutasyonu sıklığının ve tiplerinin bulunması ve varyasyon saptanan bireylerdeki fenotipik etkiyi görmek amaçlandı. Gereç ve Yöntemler: HBA1 ve HBA2 genlerindeki intron bölgelerini çevreleyen tüm kodlama bölgesi sanger dizileme ile tespit edildi. Delesyonlar ve duplikasyonlar multipleks ligasyona bağımlı prob amplifikasyonu (MLPA) ile mutasyonlar tespit edildi. Bulgular: Bölgemizde en sık rastlanan mutasyon tipi olan -3,7 / (%23,18), 3.7 kb’lık delesyon çalışmamızda da en sık olarak görülürken, diğer mutasyonların dağılımı ise --3,7 (%6,82), -3,7/-- MED (%0,91), --MED (%6,82), --20,5 (3,15), --SEA (%1,36), -4,2 (%0,95), triplikasyon (%0,45) ve nükleotid değişimleri (%4,55) olarak tespit edilmiştir. Sonuç: Mevcut bilgiler ışığında genotipin fenotipe yansımasının da farklılıklar olması nedeniyle taşıyıcı bireylerin tesbit edilmesi ve genotip fenotip ilişkisinin netleştirilmesi açısından daha geniş popülasyon taramasına ihtiyaç duyulmaktadır. Toplumu alfa talasemi ve ağır klinik seyreden genetik hastalıklar hakkında bilinçlendirmek için taşıyıcı bireylere genetik danışmanlık verilmesi ve genetik çalışmalara ağırlık verilmesi bir gerekliliktir.

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Section: Discussionunclassified

The Genotypes of α-Thalassemia and Genotypes Frequencies of α- Thalassemia in Western Aegean Region

Barış

YAVAŞ

Balasar³

et al. 2023

Sağlık Bilimlerinde Değer

Self Cite

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“…Loss of PNPLA6 activity leads to abnormally elevated levels of phosphatidylcholine in the brain and damages the secretory pathway in neurons (Pamies et al, 2014b ). PNPLA6 has also been associated with chorioretinal dystrophy (Dogan et al, 2021 ), Parkinson’s syndrome (Sen et al, 2020 ), and nerve lesions (Richardson et al, 2020 ). PNPLA6 likely participates in the development of neural and vascular systems in living organisms (Moser et al, 2004 ; Chang and Wu, 2010 ).…”

Section: Introductionmentioning

confidence: 99%

DNA Methylation of Patatin-Like Phospholipase Domain-Containing Protein 6 Gene Contributes to the Risk of Intracranial Aneurysm in Males

Zhou

Gong

et al. 2022

Front. Aging Neurosci.

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Objective: This study is aimed to investigate the contribution of patatin-like phospholipase domain-containing protein 6 (PNPLA6) DNA methylation to the risk of intracranial aneurysm (IA) in the Han Chinese population.Methods: A total of 96 age- and sex-matched participants were recruited to evaluate PNPLA6 methylation via bisulfite pyrosequencing. The PNPLA6 mRNA expression in the plasma was determined using real-time quantitative reverse transcription-polymerase chain reaction. Human primary artery smooth muscle cells (HPCASMC) were used for the in vitro function study.Results: PNPLA6 methylation was significantly higher in patients with IA than in healthy controls (p < 0.01). Sex group analysis showed that this correlation appeared in the male group (p < 0.01) but not in the female group (p > 0.05). PNPLA6 methylation was significantly associated with age in all participants (r = 0.306, p = 0.003) and in the control group (r = 0.377, p = 0.008) but not in the IA group (r = 0.127, p = 0.402). Furthermore, the PNPLA6 mRNA expression significantly decreased in patients with IA than that in the controls (p = 0.016). PNPLA6 expression was significantly inversely correlated with elevated DNA methylation in participants (r = −0.825, p < 0.0001). In addition, PNPLA6 transcription was significantly enhanced following treatment with 5-aza-2’-deoxycytidine methylation inhibitor in HPCASMC.The receiver operating characteristic analyses of curves showed that the PNPLA6 mean methylation [area under the curve (AUC) = 0.74, p < 0.001] and mRNA expression (AUC = 0.86, p < 0.001) could have a diagnostic value for patients with IA.Conclusion: Although future functional experiments are required to test our hypothesis, our study demonstrated that PNPLA6 methylation and mRNA expression were significantly associated with the risk of IA; thus, they show potential for use in the early diagnosis of IA.

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“…Later it became evident that orthologues of sws have similar role in the nervous system of vertebrates [7,[16][17][18][19]. Compound heterozygous or homozygous recessive mutations in human sws orthologue called PNPLA6 induce neurological abnormalities, affecting spinal cord [19][20][21], cerebellum [22][23][24][25][26][27][28][29][30][31][32][33][34][35][36], pituitary gland [24,26,31,37,38] and photoreceptor neurons [33,36,[38][39][40]. Furthermore, in mammals PNPLA6 is maintained because of its vital role in placenta development, so knockouts are lethal [41,42].…”

Section: Introductionmentioning

confidence: 99%

Drosophila Lysophospholipase Gene swiss cheese Is Required for Survival and Reproduction

Melentev

Sharapenkov

Surina

et al. 2021

Insects

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Drosophila melanogaster is one of the most famous insects in biological research. It is widely used to analyse functions of different genes. The phosphatidylcholine lysophospholipase gene swiss cheese was initially shown to be important in the fruit fly nervous system. However, the role of this gene in non-nervous cell types has not been elucidated yet, and the evolutional explanation for the conservation of its function remains elusive. In this study, we analyse expression pattern and some aspects of the role of the swiss cheese gene in the fitness of Drosophila melanogaster. We describe the spatiotemporal expression of swiss cheese throughout the fly development and analyse the survival and productivity of swiss cheese mutants. We found swiss cheese to be expressed in salivary glands, midgut, Malpighian tubes, adipocytes, and male reproductive system. Dysfunction of swiss cheese results in severe pupae and imago lethality and decline of fertility, which is impressive in males. The latter is accompanied with abnormalities of male locomotor activity and courtship behaviour, accumulation of lipid droplets in testis cyst cells and decrease in spermatozoa motility. These results suggest that normal swiss cheese is important for Drosophila melanogaster fitness due to its necessity for both specimen survival and their reproductive success.

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Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene

Cited by 8 publications

References 26 publications

The Genotypes of α-Thalassemia and Genotypes Frequencies of α- Thalassemia in Western Aegean Region

The Genotypes of α-Thalassemia and Genotypes Frequencies of α- Thalassemia in Western Aegean Region

DNA Methylation of Patatin-Like Phospholipase Domain-Containing Protein 6 Gene Contributes to the Risk of Intracranial Aneurysm in Males

Drosophila Lysophospholipase Gene swiss cheese Is Required for Survival and Reproduction

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