Genes discovered to explain high altitude disease

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Main Category: Genetics
Also Included In: Cardiovascular / Cardiology
Article Date: 19 Aug 2013 - 0:00 PDT Current ratings for:
Genes discovered to explain high altitude disease

Scientists say they have discovered why some humans develop chronic mountain sickness (CMS) while other people can adapt to high altitudes. According to a study published in the American Journal of Human Genetics, it is all in the genes.

Researchers from the University of California-San Diego (UCSD) say they have decoded a genetic basis for chronic mountain sickness, also known as Monge's disease, which could potentially lead to the development of new treatments.

The team conducted their research based on previous studies showing that many people who live in high-altitude regions, such as the Andes mountain region of South America, are not adapted to their environment and continue to suffer from CMS.

Around 140 million people have permanently settled within high-altitude regions, the researchers say. These environments have low-oxygen conditions, which can cause residents to suffer from hypoxia - low levels of oxygen in the blood, causing CMS.

CMS usually develops after spending an extended time living in altitudes over 3,000 meters. Symptoms include headache, depression, fatigue and sleepiness. People with the disease can often have strokes or heart attacks during early adulthood as a result of the decrease in oxygen getting to organs and tissues.

For the study, the researchers recruited 20 Peruvian residents of the Andes region: ten residents who suffered from CMS and ten residents without the disease. Their genetic variation was measured using whole genome sequencing.

Two genes were identified - ANP32D and SENP1. According to the study authors, both genes showed increased presence in residents who suffered from CMS, compared with those who did not have the disease.

The researchers looked to assess whether "down-regulating" these genes would limit the symptoms of hypoxia, and they looked at a species with corresponding gene sequences - the fruit fly.

Gabriel Haddad, distinguished professor and chair of the Department of Pediatrics at UCSD, explains:

"While a number of published articles have described an association between certain genes and the ability for humans to withstand low oxygen at high levels, it was very hard to be sure if the association was causal.

We found that flies with these genes down-regulated had a remarkably enhanced survival rate under hypoxia."

The researchers say that the findings in this study may lead to potential treatments, not only for those living at high altitudes, but also for those at any altitude who suffer from cardiovascular and brain diseases related to low oxygen levels.

Further research will involve conducting whole genome sequencing on 100 participants to determine if biomarkers - a substance used as an indicator of a biological state - exist to predict CMS.

The researchers have already taken skin samples from the 100 participants, which will be "reprogramed" into pluripotent stem cells (IPS). The study authors add that the IPS cells, if they have the capacity to become glia or red blood cells, may be used to "test the resilience to low oxygen levels."

Written by Honor Whiteman

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Cell cycle-related genes in the pathogenesis of neural tube defects

Main Category: Neurology / Neuroscience
Also Included In: Genetics;  Pediatrics / Children's Health
Article Date: 19 Aug 2013 - 0:00 PDT Current ratings for:
Cell cycle-related genes in the pathogenesis of neural tube defects

In the field of developmental neurobiology, accurate and ordered regulation of the cell cycle and apoptosis are crucial factors contributing to the normal formation of the neural tube.

Preliminary studies by Xinjun Li and colleagues from Deyang People's Hospital have identified several genes involved in the development of neural tube defects.

Their recent study published in Neural Regeneration Research (Vol. 8, No. 20, 2013) established a model of developmental neural tube defects by administration of retinoic acid to pregnant rats. Gene chip hybridization analysis showed that genes related to the cell cycle and apoptosis, signal transduction, transcription and translation regulation, energy and metabolism, heat shock, and matrix and cytoskeletal proteins were all involved in the formation of developmental neural tube defects. Among these, cell cycle-related genes were predominant. Retinoic acid treatment caused differential expression of three cell cycle-related genes p57kip2, Cdk5 and Spin, the expression levels of which were downregulated by retinoic acid and upregulated during normal neural tube formation.

The results of this study indicate that cell cycle-related genes play an important role in the formation of neural tube defects. P57kip2, Cdk5 and Spin may be critical genes in the pathogenesis of neural tube defects.

Article: " Cell cycle-related genes p57kip2, Cdk5 and Spin in the pathogenesis of neural tube defects," by Xinjun Li1, Zhong Yang2, Yi Zeng3, Hong Xu1, Hongli Li2, Yangyun Han1, Xiaodong Long1, Chao You4 (1 Department of Neurosurgery, Deyang People's Hospital, Deyang 618000, Sichuan Province, China; 2 Department of Neurobiology, the Third Military Medical University of Chinese PLA, Chongqing 400038, China; 3 Department of Neurosurgery, Sichuan Provincial People's Hospital, Chengdu 610041, Sichuan Province, China)

Li XJ, Yang Z, Zeng Y, Xu H, Li HL, Han YY, Long XD, You C. Cell cycle-related genes p57kip2, Cdk5 and Spin in the pathogenesis of neural tube defects. Neural Regen Res. 2013;8(20):1863-1871. doi:10.3969/j.issn.1673-5374.2013.20.005

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Five genes identified that play major role in Takayasu arteritis

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our cardiovascular / cardiology section for the latest news on this subject.

Additional authors: Travis Hughes, Kenan Aksu, Gokhan Keser, Patrick Coit, Sibel Z. Aydin,Fatma Alibaz-Oner, Sevil Kamali, Murat Inanc, Simon Carette, Gary S. Hoffman, Servet Akar, Fatos Onen, Nurullah Akkoc, Nader A. Khalidi, Curry Koening, Omer Karadag, Sedat Kiraz, Carol A. Langford, Carol A. McAlear, Zeynep Ozbalkan, Askin Ates,Yasar Karaaslan, Kathleen Maksimowicz-McKinnon, Paul A. Monach, Hu¨seyin T. Ozer, Emire Seyahi, Izzet Fresko, Ayse Cefle, Philip Seo, Kenneth J. Warrington, Mehmet A. Ozturk, Steven R. Ytterberg, Veli Cobankara, A. Mesut Onat, Joel M. Guthridge, Judith A. James, Ercan Tunc, Nursxen Duzgun, Muge Bicakcigil, Sibel P. Yentu¨r, Peter A. Merkel, Haner Direskeneli.

Disclosures: None

Funding: This work was made possible by funding from the University of Michigan, the Vasculitis Foundation, and the National Institutes of Health.

"Identification of Multiple Genetic Susceptibility Loci in Takayasu Arteritis," American Journal of Human Genetics, August, 2013, doi:10.1016/j.ajhg.2013.05.026

Güher Saruhan-Direskeneli1, Travis Hughes2, Kenan Aksu3, Gokhan Keser3, Patrick Coit2, Sibel Z. Aydin4, 5, Fatma Alibaz-Oner4, Sevil Kamali6, Murat Inanc6, Simon Carette7, Gary S. Hoffman8, Servet Akar9, Fatos Onen9, Nurullah Akkoc9, Nader A. Khalidi10, Curry Koening11, Omer Karadag12, Sedat Kiraz12, Carol A. Langford8, Carol A. McAlear13, Zeynep Ozbalkan14, Askin Ates14, 15, Yasar Karaaslan14, 16, Kathleen Maksimowicz-McKinnon17, 18, Paul A. Monach19, Hüseyin T. Ozer20, Emire Seyahi21, Izzet Fresko21, Ayse Cefle22, Philip Seo23, Kenneth J. Warrington24, Mehmet A. Ozturk25, Steven R. Ytterberg24, Veli Cobankara26, A. Mesut Onat27, Joel M. Guthridge28, Judith A. James28, Ercan Tunc29, Nursen Duzgun15, Muge Bicakcigil30, Sibel P. Yentür1, Peter A. Merkel13, Haner Direskeneli4 and Amr H. Sawalha2*

Department of Physiology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey Division of Rheumatology, University of Michigan, Ann Arbor, MI 48109, USA Department of Rheumatology, Faculty of Medicine, Ege University, Izmir 35100, Turkey Department of Rheumatology, Faculty of Medicine, Marmara University, Istanbul, 34890, Turkey Unit of Rheumatology, Goztepe Training and Research Hospital, Medeniyet University, Istanbul 34730, Turkey Department of Rheumatology, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey Division of Rheumatology, Mount Sinai Hospital, Toronto, ON M5L 3L9, Canada Department of Rheumatic and Immunologic Diseases, Cleveland Clinic, Cleveland, OH 44195, USA Department of Rheumatology, Faculty of Medicine, Dokuz Eylül University, Izmir 35340, Turkey Division of Rheumatology, St. Joseph’s Healthcare, McMaster University, Hamilton, ON L8N 1Y2, Canada Division of Rheumatology, University of Utah, Salt Lake City, UT 84132, USA Department of Rheumatology, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey Division of Rheumatology, University of Pennsylvania, Philadelphia, PA 19104, USA Department of Rheumatology, Ankara Numune Training and Research Hospital, Ankara 06100, Turkey Department of Rheumatology, Faculty of Medicine, Ankara University, Ankara 06100, Turkey Department of Rheumatology, Faculty of Medicine, Hitit University, Çorum 19200, Turkey Division of Rheumatology, University of Pittsburgh, Pittsburgh, PA 15261, USA Division of Rheumatology, Henry Ford Health System, Detroit, MI 48202, USA Section of Rheumatology, Boston University School of Medicine, Boston, MA 02118, USA Department of Rheumatology, Faculty of Medicine, Cukurova University, Adana 01330, Turkey Department of Rheumatology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul 34098, Turkey Department of Rheumatology, Faculty of Medicine, Kocaeli University, Kocaeli 41380, Turkey Division of Rheumatology, Johns Hopkins University, Baltimore, MD 21224, USA Division of Rheumatology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA Department of Rheumatology, Faculty of Medicine, Gazi University, Ankara 06500, Turkey Department of Rheumatology, Faculty of Medicine, Pamukkale University, Denizli 20160, Turkey Department of Rheumatology, Faculty of Medicine, Gaziantep University, Gaziantep 27310, Turkey Arthritis and Clinical Immunology Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA Department of Rheumatology, Faculty of Medicine, Suleyman Demirel University, Isparta 32260, Turkey Department of Rheumatology, Faculty of Medicine, Yeditepe University, Istanbul 34752, Turkey

Corresponding author*

University of Michigan Health System

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Functional role in the cerebellum suggested by analysis of 26 networked autism genes

Main Category: Autism
Article Date: 29 Jul 2013 - 0:00 PDT Current ratings for:
Functional role in the cerebellum suggested by analysis of 26 networked autism genes

A team of scientists has obtained intriguing insights into two groups of autism candidate genes in the mammalian brain that new evidence suggests are functionally and spatially related. The newly published analysis identifies two networked groupings from 26 genes associated with autism that are overexpressed in the cerebellar cortex, in areas dominated by neurons called granule cells.

The team, composed of neuroscientists and computational biologists, worked from a database providing expression levels of individual genes throughout the mouse brain, as complied in the open-source Allen Mouse Brain Atlas. To promote reproducibility, the scientists surveyed expression data of over 3000 genes, about three-fourths of all the genes listed in the Atlas for which two independent sets of data have been complied.

The work was led by Professor Partha Mitra of Cold Spring Harbor Laboratory (CSHL) and scientists from MindSpec, a nonprofit research organization, founded by Dr. Sharmila Banerjee-Basu.

Despite obvious genetic and neuroanatomical differences between mouse and human, the team explains, mouse models are extremely effective in dissecting out the role of specific genes, pathways, neuronal subtypes and brain regions in specific abnormal behaviors manifested in both mice and people.

Based on years of studies in both species, scientists now know of mutations affecting more than 300 genes whose occurrence correlates with autism susceptibility; more are certain to be identified. Some of these candidate genes are more strongly correlated with the illness than others, although correlation is not the same thing as direct evidence of causation.

Nevertheless, "the key question as yet unanswered," notes Dr. Mitra, "concerns the way or ways in which particular mutations, singly or in combination, cause pathologies that result in the complex combination of symptoms that characterizes autism in children." It is assumed that autism pathologies are the result of insults - genetic, environmental, or most likely both - sustained at the time of conception and early in development.

Dr. Idan Menashe, now of Ben-Gurion University of the Negev in Israel, and Dr. Pascal Grange, a postdoctoral researcher in the Mitra lab, demonstrated that co-expression of 26 autism genes was "significantly higher" than would occur by chance. "This suggests that these 26 genes have common neuro-functional properties," says Dr. Menashe.

The team found two co-expressed networks or "cliques" of genes that are significantly enriched with autism genes. They then asked where in the mouse brain these cliques are expressed. Notably, genes in both groups showed significant overexpression in the cerebellar cortex, and particularly in regions in which granule cells predominate. "This result supports prior studies pointing to involvement of the cerebellum in autism," says Dr. Grange. Specifically, a recent neuroimaging study highlighted functional subregions in the cerebellum as playing a role in both motor and cognitive tasks. Other genes associated with autism have been shown in other studies to play a role in the development of this brain region.

"Our study provides insights into co-expression properties of genes associated with autism and suggests specific brain regions implicated in pathology. Complementing these findings with additional genomic and neuroimaging analyses from both mouse and human brains will help in obtaining a broader picture of the autistic brain," the team concludes.

Article adapted by Medical News Today from original press release. Click 'references' tab above for source.
Visit our autism section for the latest news on this subject.

The research described in this release was made possible by grants from: NIH-NIDA (R21DA027644-01).

"Co-expression profiling of autism genes in the mouse brain" appears online head of print in PLOS Computational Biology. The authors are: Idan Menashe, Pascal Grange, Eric C. Larsen, Sharmila Banerjee-Basu and Partha P. Mitra. 10.1371/journal.pcbi.1003128

Cold Spring Harbor Laboratory

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