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Items: 5

1.

Schizophrenia

Schizophrenia is highly heritable, as shown by family, twin, and adoption studies. For example, for identical twins, if one twin develops schizophrenia, the other twin has about a 50% chance of also developing the disease. The risk of the general population developing the schizophrenia is about 0.3-0.7% worldwide. The search for “schizophrenia genes” has been elusive. Initial linkage studies looked at parts of the genome associated with schizophrenia, and many candidate genes were identified, including APOE, COMT, DAO, DRD1, DRD2, DRD4, DTNBP1, GABRB2, GRIN2B, HP, IL1B, MTHFR, PLXNA2, SLC6A4, TP53, and TPH1. However, some of these have later been questioned. Microdeletions and microduplications have been found to be three times more common in individuals with schizophrenia, compared to controls. Because these deletions and duplications are in genes that are overexpressed in pathways related to brain development, it is possible that the inheritance of multiple rare variants may contribute to the development of schizophrenia. Several genetic disorders feature schizophrenia as a clinical feature. The 22q11.2 Deletion Syndrome comprises many different syndromes, of which one of the most serious is DiGeorge syndrome. Children born with DiGeorge syndrome typically have heart defects, cleft palate, learning difficulties, and immune deficiency. Schizophrenia is a late manifestation, affecting around 30% of individuals. Microdeletions and duplications in chromosome 1, 2, 3, 7, 15 and 16 have also been associated with schizophrenia. In 2014, a genome-wide association study looked at the genomes of over 35,000 patients and 110,00 controls. The study identified 108 SNPs that were associated with schizophrenia, 83 of which had not been previously reported. As expected, many of these loci occurred in genes that are expressed in the brain. For example, the SNPs included a gene that encodes the dopamine D2 receptor, DRD2 (the target of antipsychotic drugs), and many genes involved in glutamine neurotransmitter pathways and synaptic plasticity (e.g., GRM3, GRIN2A, SRR, GRIA1). More surprisingly, however, associations were also enriched among genes expressed in tissues with important immune functions. In 2016, a study based on nearly 65,000 people investigated the association between schizophrenia and variation in the Major Histocompatibility Complex (MHC) locus—a region on chromosome 6 that is important for immune function. The study focused on the C4 gene (complement component 4) that exists as two distinct genes: C4A and C4B, which encode particularly structurally diverse alleles. The study found that the alleles which promoted greater expression of C4A in the brain were associated with a greater risk of schizophrenia. By using mice models, the study showed that C4 is involved in the elimination of synapses during brain maturation. In humans, “synaptic pruning” is most active during late adolescence, which coincides with the typical onset of symptoms of schizophrenia. It is therefore possible that the inheritance of specific C4A alleles could lead to “run away” synaptic pruning, increasing the risk of schizophrenia. Further research may even determine C4 as a potential therapeutic target. [from Medical Genetics Summaries]

MedGen UID:
48574
Concept ID:
C0036341
Mental or Behavioral Dysfunction
2.

Vitamin D

Vitamin D helps your body absorb calcium. Calcium is one of the main building blocks of bone. A lack of vitamin D can lead to bone diseases such as osteoporosis or rickets. Vitamin D also has a role in your nerve, muscle, and immune systems. You can get vitamin D in three ways: through your skin, from your diet, and from supplements. Your body forms vitamin D naturally after exposure to sunlight. However, too much sun exposure can lead to skin aging and skin cancer. So many people try to get their vitamin D from other sources. Vitamin D-rich foods include egg yolks, saltwater fish, and liver. Some other foods, like milk and cereal, often have added vitamin D. . You can also take vitamin D supplements. Check with your health care provider to see how much you should take. People who might need extra vitamin D include. -Seniors. -Breastfed infants. -People with dark skin. -People with certain conditions, such as liver diseases, cystic fibrosis and Crohn's disease. -People who are obese or have had gastric bypass surgery. NIH: National Institutes of Health Office of Dietary Supplements.  [from MedlinePlus]

MedGen UID:
22670
Concept ID:
C0042866
Organic Chemical; Pharmacologic Substance; Steroid; Vitamin
3.

Schizophrenia

A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. [from HPO]

MedGen UID:
506532
Concept ID:
CN117643
Finding
4.

Vitamins

Vitamins are substances that your body needs to grow and develop normally. There are 13 vitamins your body needs. They are. -Vitamin A. -B vitamins (thiamine, riboflavin, niacin, pantothenic acid, biotin, vitamin B-6, vitamin B-12 and folate). -Vitamin C. -Vitamin D. -Vitamin E. -Vitamin K. You can usually get all your vitamins from the foods you eat. Your body can also make vitamins D and K. People who eat a vegetarian diet may need to take a vitamin B12 supplement. . Each vitamin has specific jobs. If you have low levels of certain vitamins, you may get health problems. For example, if you don't get enough vitamin C, you could become anemic. Some vitamins may help prevent medical problems. Vitamin A prevents night blindness. The best way to get enough vitamins is to eat a balanced diet with a variety of foods. In some cases, you may need to take vitamin supplements. It's a good idea to ask your health care provider first. High doses of some vitamins can cause problems.  [from MedlinePlus]

MedGen UID:
12117
Concept ID:
C0042890
Organic Chemical; Pharmacologic Substance; Vitamin
5.

Schizophrenia 2

MedGen UID:
350323
Concept ID:
C1864010
Disease or Syndrome
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