The Insanity Virus-Schizophrenia Could Be Caused By A Virus

Image by twenty_questions via Flickr

“Steven and David Elmore were born identical twins, but their first days in this world could not have been more different. David came home from the hospital after a week. Steven, born four minutes later, stayed behind in the ICU. For a month he hovered near death in an incubator, wracked with fever from what doctors called a dangerous viral infection. Even after Steven recovered, he lagged behind his twin. He lay awake but rarely cried. When his mother smiled at him, he stared back with blank eyes rather than mirroring her smiles as David did. And for several years after the boys began walking, it was Steven who often lost his balance, falling against tables or smashing his lip.

Those early differences might have faded into distant memory, but they gained new significance in light of the twins’ subsequent lives. By the time Steven entered grade school, it appeared that he had hit his stride. The twins seemed to have equalized into the genetic carbon copies that they were: They wore the same shoulder-length, sandy-blond hair. They were both B+ students. They played basketball with the same friends. Steven Elmore had seemingly overcome his rough start. But then, at the age of 17, he began hearing voices…”

Read the rest of this great article at Discover Magazine Online.

Related articles

• Retroviruses and schizophrenia: a scientific detective story (boingboing.net)
• Schizophrenia is a prehistoric lemur infection. (wired.com)
• How Long Can a Cat Live With Feline Leukemia? (brighthub.com)
• What is the Feline Leukemia Virus and What are the Signs and Treatments? (brighthub.com)
• West Nile virus – All Information (umm.edu)
• How Long do Viral Infections Last (brighthub.com)

Falling in love is ‘more scientific than you think’…

‘A new meta-analysis study conducted by Syracuse University Professor Stephanie Ortigue is getting attention around the world. The groundbreaking study, “The Neuroimaging of Love,” reveals falling in love can elicit not only the same euphoric feeling as using cocaine, but also affects intellectual areas of the brain. Researchers also found falling in love only takes about a fifth of a second.’

Read the rest of the article by clicking here

 

 

 

http://bit.ly/c7oy0b

Proof that we still have alot to learn-Croatian teenager wakes up from a coma speaking fluent GERMAN

Knin;Image via Wikipedia

Excerpt from the Daily Mail:

“Croatian doctors are baffled after a teenage girl who fell into a mysterious coma woke up speaking fluent German.

The parents of the 13-year-old from the southern town of Knin said their daughter had only just started studying German at school and had been trying to read German books and watch German television -  but had never been that good in German.

But since waking up the teenager has been unable to speak Croatian and even refused it, but communicates only in perfect German far superior to her mastery of the language she had when she was taken ill.”
Read more: http://www.dailymail.co.uk/news/worldnews/article-1265433/Croatian-teenager-wakes-coma-speaking-fluent-German.html#ixzz0kv4uyY7H

Irish Researchers Uncover New Data on Arl13b function in Joubert Syndrome

A cilium (plural cilia) is an organelle found in eukaryotic cells.Image via WikipediaIntroduction

Introduction

Researchers in Ireland have gained a new understanding of the role played by the cilial protein Arl13b in Joubert syndrome (JS). The findings will be published online March 15 in the Journal of Cell Biology.Joubert Syndrome is a rare brain malformation characterized by the absence or underdevelopment of the cerebellar vermis – an area of the brain that controls balance and coordination.[1]

Arl3b

The name ‘Arl13b’ stands for ‘ADP-ribosylation factor-like 13B’ and is also known as ‘ADP-ribosylation factor-like protein 2-like 1′ and ‘ARL2-like protein 1′ or ‘ARL2L1′.It is a member of the Arf/Arl (Arf-like) family of small GTPases.GTPases are a family of hydrolase enzymes that can bind and hydrolyze guanosine triphosphate (GTP).The GTP binding and hydrolysis takes place in the highly conserved G domain common to all GTPases. [2]

Study of Arl13b

Although Arl13b—which is required for cilium biogenesis (production of new cilia) and embryo development—is known to be mutated in patients with JS, the specific cilial and molecular basis of Arl13b function has been poorly understood. Oliver Blacque and colleagues (University College Dublin) used C. elegans ,a microscopic trasnsparent earthworm commonly used in biomedical reseacrh,and mammalian cell culture systems to investigate Arl13b function.

Description of Cilia
A cilium (plural cilia)is an organelle found in eukaryotic cells.They are thin, tail-like projections extending approximately 5–10 micrometers outwards from the much larger cell body and can be classified into two types,motile cilia and primary cilia.Primary cilia are found on nearly every cell in the body in humans and typically serve as sensory organelles.

Findings

Their findings show that JS-associated Arl13b works at ciliary membranes, where it regulates ciliary transmembrane protein localization and transport of proteins to the tip of the cilium.

About Joubert Syndrome (JS)

The most common features of Joubert syndrome in infants include  decreased muscle tone (hypotonia),abnormally rapid breathing (hyperpnea), jerky eye movements (oculomotor apraxia), mental retardation, and the inability to coordinate voluntary muscle movements (ataxia). Physical deformities  such as extra fingers and toes (polydactyly), cleft lip or palate, and tongue abnormalities may also be present. Kidney and liver abnormalities can develop, and seizures can also occur.

Most cases of Joubert syndrome are sporadic (not inherited). In some families, however, Joubert syndrome appears to be inherited in an autosomal recessive manner (meaning both parents  have a copy of the mutation) via mutation in a number of genes, including NPHP1, AHI1, and CEP290.

Prognosis with JS

The prognosis for children depends on whether the cerebellar vermis is entirely absent or just underdeveloped.Some children may only exhibit a mild form of the disorder with good mental ability and minimal motor problems while others may suffer severe motor disablility and moderate mental retardation.The syndrome was first identified by pioneering pediatric neurologist Marie Joubert in Montreal, Canada, while working at the Montreal Neurological Institute and McGill University[1,3]

Neuroradiological Hallmarks of JS

The neuroradiological hallmark in JS is a peculiar malformation of the midbrain-hindbrain junction known as the “molar tooth sign” (MTS), consisting of cerebellar vermis hypoplasia (cerebellar vermis underdevelopment ) or dysplasia (developmental abnormality), thick and horizontally oriented superior cerebellar peduncles, and an abnormally deep interpeduncular fossa (somewhat lozenge-shaped area of the base of the brain).[4]

Sources

http://www.eurekalert.org/pub_releases/2010-03/rup-run030910.php

http://jcb.rupress.org/cgi/content/abstract/jcb.200908133v1

References

1.NINDS Joubert Syndrome Information Page

2. Kenji Kontani, Yuji Hori, Toshiaki Katada (2009)Arf-like protein 13B,UCSD-Nature Molecule Pages,doi:10.1038/mp.a003975.01

3.Joubert M, Eisenring JJ, Robb JP, Andermann F (September 1969). “Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation”. Neurology 19 (9): 813–25. PMID 5816874.

4.Vincent Cantagrel,^1,17 Jennifer L. Silhavy, et al (2008)”Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome” The American Journal of Human Genetics,Published online 2008 August 1. doi: 10.1016/j.ajhg.2008.06.023.

More Information

http://www.genenames.org/data/hgnc_data.php?hgnc_id=25419

Classification and evolution of P-loop GTPases and related ATPases

Uniprot entry

NCBI Bookshelf

Related articles by Zemanta

• Researchers find new insights into inherited retinal disease (scienceblog.com)
• Autism Genetic Test Doesn’t Answer Most Parents’ Questions (usnews.com)
• Researchers Identify microRNA targets in C. elegans (scienceblog.com)
• QR Pharma receives US patent to treat Down Syndrome (newstatesman.com)
• Cell Part 3 (slideshare.net)
• MD finds his family’s rare disorder in genome (cbc.ca)

Cancer Genome Atlas Identifies Distinct Subtypes of the Brain Cancer Glioblastoma Multiforme

Gliobastoma (astrocytoma) WHO grade IV - MRI coronal view, post contrast. 15 year old boy;Image via Wikipedia

Another Article on Glioblastoma Multiforme that I’ve written on scientificblogging.com!

The most common form of  brain tumor in adults, glioblastoma multiforme (GBM), is not in fact a single disease but appears to be four distinct molecular subtypes, according to a study by The Cancer Genome Atlas (TCGA) Research Network. The researchers in this study also found that response to aggressive chemotherapy and radiation differed by subtype.The research team for TCGA is a collaborative effort funded by the National Cancer Institute (NCI) and the National Human Genome Research Institute (NHGRI), both parts of the National Institutes of Health. The Cancer Genome Atlas (TCGA) aims to catalogue and discover major cancer-causing genome alterations in large cohorts of human tumours through integrated multi-dimensional analyses.(3)The study, published Jan. 19, 2010 in Cancer Cell, provides a solid framework for investigation of targeted therapies that may improve the near uniformly fatal prognosis of this cancer.Although the findings do not affect current clinical practice, the researchers said the results may lead to more personalized approaches to treating groups of GBM patients based on their genomic alterations.Rest of article can be read by following the link below.

http://www.scientificblogging.com/biochem_geek/blog/cancer_genome_atlas_identifies_distinct_subtypes_brain_cancer_glioblastoma_multiforme

Mendelian Randomization: A Brief Overview

Introduction

I’ve seen the term Mendelian randomization in a few articles and their related papers that I’ve read recently ,and not knowing what it was I’ve written this overview to teach myself and tell anyone else who doesn’t know.

Genetic Epidemiology

Geneticepidemiology is concerned with understanding the heritable aspectsof disease risk, individual susceptibility to disease, and ultimatelywith contributing to a comprehensive molecular understandingof pathogenesis.(2) Epidemiologists look for modifiable causes of common diseasesto improve population health. However, epidemiological studiesmay identify spurious “causes.” For example, the epidemiologicalfindings that hormone replacement therapy protects against coronaryheart disease and that carotene prevents lung cancer have been refuted by randomized controlled trials,raising concerns about the value of epidemiological studies. The misleadingfindings were thought to be due to confounding by behavioral, physiological,and socioeconomic factors related both to exposures and to diseaseend points. One solution to these problems is mendelian randomization. (3)

What is Mendelian Randomization?

Mendelian randomization is a recent development in the field of genetic epidemiology which uses non-experimental studies to examine the causal effect of a modifiable phenotype or exposure on disease by making use of measured variation in genes of known function.It is based on Mendel’s second law that inheritance of one trait is independent of inheritance of other traits.If we know of a gene closely linked to the phenotype without direct effect on the disease, it can be reasonably assumed that the gene is not itself associated with any confounding factors.(2,3)

Mendelian Randomization Approach

In the Mendelian randomization approach, investigators first identify genetic polymorphisms that affect levels of the risk factor whose causal significance is queried .  The relationships between polymorphisms and risk factor, risk factor and disease, and polymorphisms and disease are then quantified. If the hypothesised risk factor causes disease, it is anticipated that the association between the polymorphisms and disease risk will be at least commensurate with what would be “expected,” given the association between the polymorphisms and the risk factor, and the association between the risk factor and disease.Mendelian randomization provides a potential method to assess the causality of associations described in epidemiological studies where suitably specific drugs to undertake randomised controlled trials are not yet available.(1)

Limitations

Some limitations include a lack of suitable genetic variants, unreliable associations, population stratification, linkage disequilibrium (LD), pleiotropy, developmental canalization, the need for large sample sizes and some potential problems with binary outcomes.  Given an inheritance of gene expression from parents, Mendelian randomization studies not only need to assume a random distribution of alleles in the offspring, but also a random distribution of epigenetic changes (non-Mendelian, heritable changes in gene expression not accompanied by alterations in DNA sequence) at conception, in order for the core assumptions of the Mendelian randomization methodology to remain valid .(4)

Further Reading

• Davey Smith G. Capitalising on Mendelian randomization to assess the effects of treatments,available: http://www.jameslindlibrary.org/trial_records/20th_Century/1990s/gray/gray-commentary.html
• Mendelian randomisation: Inferring Causality in Observational Epidemiology: http://www.genestat.org/index.php?n=GeneStat.MendelianRandomisation

References:

1. Didelez,Vanessa and Sheehan,Nuala (2007) Mendelian randomization as an instrumental variable approach to causal inference,available:http://smm.sagepub.com/cgi/content/abstract/16/4/309

2. Davey Smith,George and Ebrahim,Shah ‘Mendelian randomization’: can genetic epidemiology contribute to understanding environmental determinants of disease? ‘Int. J. Epidemiol. 32: 1-22.

3.Davey Smith,George and Ebrahim,Shah ,What can mendelian randomisation tell us about modifiable behavioural and environmental exposures? BMJ  2005;330:1076-1079 (7 May), doi:10.1136/bmj.330.7499.1076

4. Ikechukwu U Ogbuanu, Hongmei Zhang and Wilfried Karmau (2009) ‘Can we apply the Mendelian randomization methodology without considering epigenetic effects? doi:10.1186/1742-7622-6-3

Related articles by Zemanta

• A Family Tree, a Rare Cancer, and a Hunt for its Cause: Scientific American (scientificamerican.com)
• Gene that raises bladder cancer risk identified (stemcell.taragana.net)
• Causation and Hill’s Criteria (sciencebasedmedicine.org)
• Sage Bionetworks Update: building an OA standard for human disease biology (pimm.wordpress.com)
• Epigenetics, DNA: How You Can Change Your Genes, Destiny (time.com)
• Genomics and Personalized Medicine (medicineandtechnology.com)
• Randomized trial versus observational study challenge, V: pre-randomization (scienceblogs.com)