keyword
https://read.qxmd.com/read/38336605/identification-of-genomic-characteristics-and-selective-signals-in-guizhou-black-goat
#1
JOURNAL ARTICLE
Lingle Chang, Yundi Zheng, Sheng Li, Xi Niu, Shihui Huang, Qingmeng Long, Xueqin Ran, Jiafu Wang
BACKGROUND: Guizhou black goat is one of the indigenous black goat breeds in the southwest region of Guizhou, China, which is an ordinary goat for mutton production. They are characterized by moderate body size, black coat, favorite meat quality with tender meat and lower odor, and tolerance for cold and crude feed. However, little is known about the genetic characteristics or variations underlying their important economic traits. RESULTS: Here, we resequenced the whole genome of Guizhou black goat from 30 unrelated individuals breeding in the five core farms...
February 9, 2024: BMC Genomics
https://read.qxmd.com/read/38219528/clinical-and-genetic-profile-of-patients-with-dystonia-an-experience-from-a-tertiary-neurology-center-from-india
#2
JOURNAL ARTICLE
Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar Pal
BACKGROUND: The genetics of dystonia have varied across different ethnicities worldwide. Its significance has become more apparent with the advent of deep brain stimulation. OBJECTIVE: To study the clinico-genetic profile of patients with probable genetic dystonia using whole exome sequencing (WES). METHODS: A prospective, cross-sectional study was conducted from May 2021 to September 2022, enrolling patients with dystonia of presumed genetic etiology for WES...
March 2024: Parkinsonism & related Disorders
https://read.qxmd.com/read/38047104/treatment-of-pantothenate-kinase-neurodegeneration-with-baclofen-botulinum-toxin-and-deferiprone-a-case-report
#3
Marya Hameed, Fatima Siddiqui, Muhammad Khuzzaim Khan, Sindhura Tadisetty, Prasanna Kumar Gangishetti
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive disorder characterized by progressive motor symptoms, such as dystonia and spasticity. Classical PKAN is the most common subtype of neurodegeneration with brain iron accumulation (NBIA). Currently, there is no established treatment for PKAN. However, baclofen and botulinum toxin have been reported to improve motor symptoms and ease care in these patients. Additionally, Deferiprone is a well-tolerated iron chelator that has been shown to be effective in reducing brain iron accumulation...
November 2023: Brain & NeuroRehabilitation
https://read.qxmd.com/read/37942365/pantothenate-kinase-associated-neurodegeneration-pkan-with-concomitant-blepharospasm-unveiling-a-clinical-enigma
#4
Venkat Reddy, Keyur Saboo, Kavyanjali Reddy, Sunil Kumar, Sourya Acharya
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare and complex neurodegenerative disorder. It occurs due to mutations in the sequencing of the PANK2 gene. Here, we describe the case of a 22-year-old male patient who presented with severe blepharospasm; he had abnormal facial distortions, shaky limbs, rigid muscles, and a slow pace of movement, making a diagnosis tricky. Accumulation of iron in excessive amounts in the basal ganglia, a part of the brain that governs movement, is linked to PKAN...
October 2023: Curēus
https://read.qxmd.com/read/37904482/the-first-vietnamese-patient-who-presented-late-onset-of-pantothenate-kinase-associated-neurodegeneration-diagnosed-by-whole-exome-sequencing-a-case-report
#5
JOURNAL ARTICLE
Van Khanh Tran, Chi Dung Vu, Hai Anh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Ngoc Lan, Huy Thinh Tran, Nguyen Huy Hoang
RATIONALE: Pantothenate kinase-associated neurodegeneration (PKAN), also called Hallervorden-Spatz syndrome, is a rare autosomal recessive disease associated with brain iron accumulation and characterized by progressive dystonia, dementia, and dysarthria symptoms. PKAN, caused by a defective pantothenate kinase 2 (PANK2) gene, is the most common neurodegeneration with a brain iron accumulation (NBIA) group. The "eye of the tiger" sign in the magnetic resonance imaging demonstrated a bilateral hyperintense signal in the basal ganglia region on T2-weighted images, which is a characteristic feature of the diagnosis...
October 27, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/37900501/diagnosis-and-treatment-of-pantothenate-kinase-associated-neurodegeneration-pkan-a-systematic-review
#6
REVIEW
Meera R Pohane, Rajshri Dafre, Nikhil G Sontakke
A specific type of neurodegeneration with brain iron accumulation (NBIA) falls under the omit phenotypic continuum-early childhood development of progressive pantothenate kinase-associated neurodegeneration (PKAN). Classic PKAN is distinguished from atypical PKAN by stiffness, dystonia, dysarthria, and choreoathetosis. Pigmentary retinal degeneration is a widespread cause of classic PKAN. Atypical PKAN is distinguished by a later onset (>10 years), noticeable speech abnormalities, psychological disorders, and slower disease development...
September 2023: Curēus
https://read.qxmd.com/read/37895830/patient-derived-cellular-models-for-polytarget-precision-medicine-in-pantothenate-kinase-associated-neurodegeneration
#7
REVIEW
Mónica Álvarez-Córdoba, Marta Talaverón-Rey, Suleva Povea-Cabello, Paula Cilleros-Holgado, David Gómez-Fernández, Rocío Piñero-Pérez, Diana Reche-López, Manuel Munuera-Cabeza, Alejandra Suárez-Carrillo, Ana Romero-González, Jose Manuel Romero-Domínguez, Alejandra López-Cabrera, José Ángel Armengol, José Antonio Sánchez-Alcázar
The term neurodegeneration with brain iron accumulation (NBIA) brings together a broad set of progressive and disabling neurological genetic disorders in which iron is deposited preferentially in certain areas of the brain. Among NBIA disorders, the most frequent subtype is pantothenate kinase-associated neurodegeneration (PKAN) caused by pathologic variants in the PANK2 gene codifying the enzyme pantothenate kinase 2 (PANK2). To date, there are no effective treatments to stop the progression of these diseases...
September 26, 2023: Pharmaceuticals
https://read.qxmd.com/read/37875310/-pantothenate-kinase-activation-restores-brain-coenzyme-a-in-a-mouse-model-of-pantothenate-kinase-associated-neurodegeneration
#8
JOURNAL ARTICLE
Chitra Subramanian, Matthew W Frank, Rajaa Sukun, Christopher E Henry, Anna Wade, Mallory E Harden, Satish Rao, Rajendra Tangallapally, Mi-Kyung Yun, Stephen W White, Richard E Lee, Uma Sinha, Charles O Rock, Suzanne Jackowski
Pantothenate kinase associated neurodegeneration (PKAN) is characterized by a motor disorder with combinations of dystonia, parkinsonism and spasticity, leading to premature death. PKAN is caused by mutations in the PANK2 gene that result in loss or reduction of PANK2 protein function. PANK2 is one of three kinases that initiate and regulate coenzyme A biosynthesis from vitamin B5 and the ability of BBP-671, an allosteric activator of pantothenate kinases, to enter the brain and elevate coenzyme A was investigated...
October 24, 2023: Journal of Pharmacology and Experimental Therapeutics
https://read.qxmd.com/read/37653408/patient-and-caregiver-experiences-with-pantothenate-kinase-associated-neurodegeneration-pkan-results-from-a-patient-community-survey
#9
JOURNAL ARTICLE
Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade, David Rintell
BACKGROUND: Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal recessive genetic disorder of PANK2, which enables mitochondrial synthesis of coenzyme A. Its loss causes neurodegeneration with iron accumulation primarily in motor-related brain areas. Symptoms include dystonia, parkinsonism, and other disabilities. PKAN has been categorized as classic PKAN, with an age of onset ≤ 10 years, rapid progression, and early disability or death; and atypical PKAN, with later onset, slower progression, generally milder, and more diverse symptom manifestations...
August 31, 2023: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/37607452/whole-exome-sequencing-and-clinical-investigation-of-young-onset-dystonia-what-can-we-learn
#10
JOURNAL ARTICLE
Jong Hyeon Ahn, Ah Reum Kim, Woong-Yang Park, Jin Whan Cho, Jongkyu Park, Jinyoung Youn
BACKGROUND: Dystonia is a heterogeneous movement disorder involving various genetic backgrounds, and the implication of whole exome sequencing (WES) has yet to be clearly elucidated. In this study, we performed WES in Korean patients with young-onset dystonia. METHODS: We recruited patients with young-onset dystonia based on the new MDS dystonia classification at Samsung Medical Centre from 2015 to 2019. We excluded subjects diagnosed by single gene tests (GCH1, TOR1A, PANK2, PRRT2, and SGCE) or levodopa trials and subjects with focal or possible secondary dystonia...
October 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/37188304/typical-pantothenate-kinase-associated-neurodegeneration-caused-by-compound-heterozygous-mutations-in-pank2-gene-in-a-chinese-patient-a-case-report-and-literature-review
#11
Yilun Tao, Chen Zhao, Dong Han, Yiju Wei, Lihong Wang, Wenxia Song, Xiaoze Li
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy. PKAN is caused by biallelic mutations in the mitochondrial pantothenate kinase 2 ( PANK2 ) gene. Herein, we report a 4-year-old patient with PKAN from a Han Chinese family, who presented with developmental regression, progressive inability to walk, and limb tremors. Neuroimaging demonstrated "eye-of-the-tiger" sign...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37185991/circ_0006873-suppresses-the-osteogenic-differentiation-of-human-derived-mesenchymal-stem-cells-through-mediating-mir-20a-smurf2-axis-in-vitro
#12
JOURNAL ARTICLE
Jiangna Pang, Yongfu Wu, Yanlin Ji, Yilan Si, Fang Liang
The clinical application of human-derived mesenchymal stem cells (hMSCs) in osteoporosis (OP) treatment is promising. We aimed to uncover the role of circular RNA 0006873 (circ_0006873) in OP progression using hMSCs. The levels of circ_0006873, pantothenate kinase 2 (PANK2) messenger RNA (mRNA), microRNA-20a (miR-20a), SMAD specific E3 ubiquitin protein ligase 2 (SMURF2) mRNA and the mRNA levels of osteogenesis-related markers were measured by quantitative real-time polymerase chain reaction (qRT-PCR). The protein expression of osteogenesis-related markers and SMURF2 was detected by Western blot assay...
April 27, 2023: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://read.qxmd.com/read/37139068/case-report-novel-compound-heterozygous-variants-in-the-pank2-gene-in-a-chinese-patient-diagnosed-with-asd-and-adhd
#13
Siqi Dong, Ya Tuo, Zihan Qi, Yuanfeng Zhang, Xiaoni Liu, Ping Huang, Xiangjun Chen
The PANK2 gene, which encodes mitochondrial pantothenate kinase 2 protein, is the disease-causing gene for pantothenate kinase-associated neurodegeneration (PKAN). We report a case of atypical PKAN with autism-like symptoms presenting with speech difficulties, psychiatric symptoms, and mild developmental retardation. Magnetic resonance imaging (MRI) of the brain showed the typical "eye-of-the-tiger" sign. Whole-exon sequencing revealed PANK2 p.Ile501Asn/p.Thr498Ser compound heterozygous variants. Our study highlights the phenotypic heterogeneity of PKAN, which can be confused with autism spectrum disorder (ASD) and attention-deficit hyperactivity disorder (ADHD) and requires careful clinical identification...
2023: Frontiers in Neurology
https://read.qxmd.com/read/37121191/clinical-imaging-and-genetic-profile-of-twenty-four-patients-with-pantothenate-kinase-associated-neurodegeneration-pkan-a-single-centre-study-from-india
#14
JOURNAL ARTICLE
Neeharika Sriram, Vikram V Holla, Riyanka Kumari, Nitish Kamble, Jitender Saini, Rohan Mahale, Manjunath Netravathi, Hansashree Padmanabha, Vykuntaraju K Gowda, Rajani Battu, Akhilesh Pandey, Ravi Yadav, Babylakshmi Muthusamy, Pramod Kumar Pal
INTRODUCTION: Pantothenate kinase-associated neurodegeneration (PKAN) is the most common "Neurodegeneration with Brain Iron Accumulation" disorder. This study aimed to study the clinical, radiological and genetic profiling of a large cohort of patients with PKAN. METHODS: This is an ambispective hospital-based single centre study conducted at a tertiary care centre from India. After tabulating the clinical details, appropriate rating scales were applied followed by magnetic resonance imaging brain and exome sequencing...
June 2023: Parkinsonism & related Disorders
https://read.qxmd.com/read/37096298/a-brief-history-of-nbia-gene-discovery
#15
JOURNAL ARTICLE
Susan J Hayflick
Neurodegenerative disorders associated with high basal ganglia iron are known by the overarching term of 'NBIA' disorders or 'neurodegeneration with brain iron accumulation'. Discovery of their individual genetic bases was greatly enabled by the collection of DNA and clinical data in just a few centers. With each discovery, the remaining idiopathic disorders could be further stratified by common clinical, radiographic or pathological features to enable the next hunt. This iterative process, along with strong and open collaborations, enabled the discoveries of PANK2, PLA2G6, C19orf12, FA2H, WDR45, and COASY gene mutations as underlying PKAN, PLAN, MPAN, FAHN, BPAN, and CoPAN, respectively...
April 26, 2023: Journal of Movement Disorders
https://read.qxmd.com/read/37046296/alpha-lipoic-acid-supplementation-corrects-pathological-alterations-in-cellular-models-of-pantothenate-kinase-associated-neurodegeneration-with-residual-pank2-expression-levels
#16
JOURNAL ARTICLE
Marta Talaverón-Rey, Mónica Álvarez-Córdoba, Irene Villalón-García, Suleva Povea-Cabello, Juan M Suárez-Rivero, David Gómez-Fernández, Ana Romero-González, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Paula Cilleros-Holgado, Diana Reche-López, Rocío Piñero-Pérez, José A Sánchez-Alcázar
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) disorders are a group of neurodegenerative diseases that have in common the accumulation of iron in the basal nuclei of the brain which are essential components of the extrapyramidal system. Frequent symptoms are progressive spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal degeneration or optic nerve atrophy. One of the most prevalent subtypes of NBIA is Pantothenate kinase-associated neurodegeneration (PKAN)...
April 12, 2023: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/36983025/inherited-disorders-of-coenzyme-a-biosynthesis-models-mechanisms-and-treatments
#17
REVIEW
Chiara Cavestro, Daria Diodato, Valeria Tiranti, Ivano Di Meo
Coenzyme A (CoA) is a vital and ubiquitous cofactor required in a vast number of enzymatic reactions and cellular processes. To date, four rare human inborn errors of CoA biosynthesis have been described. These disorders have distinct symptoms, although all stem from variants in genes that encode enzymes involved in the same metabolic process. The first and last enzymes catalyzing the CoA biosynthetic pathway are associated with two neurological conditions, namely pantothenate kinase-associated neurodegeneration (PKAN) and COASY protein-associated neurodegeneration (CoPAN), which belong to the heterogeneous group of neurodegenerations with brain iron accumulation (NBIA), while the second and third enzymes are linked to a rapidly fatal dilated cardiomyopathy...
March 21, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/36790591/neurodegeneration-with-brain-iron-accumulation-a-case-series-highlighting-phenotypic-and-genotypic-diversity-in-20-indian-families
#18
JOURNAL ARTICLE
Haseena Sait, Somya Srivastava, Manmohan Pandey, Deepak Ravichandran, Anju Shukla, Kausik Mandal, Deepti Saxena, Arya Shambhavi, Purvi Majethia, Lakshmi Priya Rao, Suvasini Sharma, Shubha R Phadke, Amita Moirangthem
Neurodegeneration with brain iron accumulation (NBIA) is an umbrella term encompassing various inherited neurological disorders characterised by abnormal iron accumulation in basal ganglia. We aimed to study the clinical, radiological and molecular spectrum of disorders with NBIA. All molecular-proven cases of NBIA presented in the last 5 years at 2 tertiary care genetic centres were compiled. Demographic details and clinical and neuroimaging findings were collated. We describe 27 individuals from 20 unrelated Indian families with causative variants in 5 NBIA-associated genes...
February 15, 2023: Neurogenetics
https://read.qxmd.com/read/36678831/ppar-gamma-agonist-leriglitazone-recovers-alterations-due-to-pank2-deficiency-in-hips-derived-astrocytes
#19
JOURNAL ARTICLE
Paolo Santambrogio, Anna Cozzi, Ivano Di Meo, Chiara Cavestro, Cristina Vergara, Laura Rodríguez-Pascau, Marc Martinell, Pilar Pizcueta, Valeria Tiranti, Sonia Levi
The novel brain-penetrant peroxisome proliferator-activated receptor gamma agonist leriglitazone, previously validated for other rare neurodegenerative diseases, is a small molecule that acts as a regulator of mitochondrial function and exerts neuroprotective, anti-oxidative and anti-inflammatory effects. Herein, we tested whether leriglitazone can be effective in ameliorating the mitochondrial defects that characterize an hiPS-derived model of Pantothenate kinase-2 associated Neurodegeneration (PKAN). PKAN is caused by a genetic alteration in the mitochondrial enzyme pantothenate kinase-2, whose function is to catalyze the first reaction of the CoA biosynthetic pathway, and for which no effective cure is available...
January 6, 2023: Pharmaceutics
https://read.qxmd.com/read/36613877/evidence-for-a-conserved-function-of-eukaryotic-pantothenate-kinases-in-the-regulation-of-mitochondrial-homeostasis-and-oxidative-stress
#20
JOURNAL ARTICLE
Camilla Ceccatelli Berti, Shalev Gihaz, Sonia Figuccia, Jae-Yeon Choi, Anasuya C Pal, Paola Goffrini, Choukri Ben Mamoun
Human PANK1 , PANK2 , and PANK3 genes encode several pantothenate kinase isoforms that catalyze the phosphorylation of vitamin B5 (pantothenic acid) to phosphopantothenate, a critical step in the biosynthesis of the major cellular cofactor, Coenzyme A (CoA). Mutations in the PANK2 gene, which encodes the mitochondrial pantothenate kinase (PanK) isoform, have been linked to pantothenate-kinase associated neurodegeneration (PKAN), a debilitating and often fatal progressive neurodegeneration of children and young adults...
December 27, 2022: International Journal of Molecular Sciences
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