Filtering by
- All Subjects: Genetics
![152309-Thumbnail Image.png](https://d1rbsgppyrdqq4.cloudfront.net/s3fs-public/styles/width_400/public/2021-08/152309-Thumbnail%20Image.png?versionId=mfaMSbvOEez0X6Z7XDnKSI3a.OcqTX3s&X-Amz-Content-Sha256=UNSIGNED-PAYLOAD&X-Amz-Algorithm=AWS4-HMAC-SHA256&X-Amz-Credential=AKIASBVQ3ZQ42ZLA5CUJ/20240606/us-west-2/s3/aws4_request&X-Amz-Date=20240606T075428Z&X-Amz-SignedHeaders=host&X-Amz-Expires=120&X-Amz-Signature=896f750684eae7deddca2f3cec1bba7f555a060ba5d6e724fa61571ec3a7735c&itok=LFQjsxEM)
![150916-Thumbnail Image.png](https://d1rbsgppyrdqq4.cloudfront.net/s3fs-public/styles/width_400/public/2021-09/150916-Thumbnail%20Image.png?versionId=uL4qyuOccWgNXH165bp6Vo9EDBWciW_d&X-Amz-Content-Sha256=UNSIGNED-PAYLOAD&X-Amz-Algorithm=AWS4-HMAC-SHA256&X-Amz-Credential=AKIASBVQ3ZQ42ZLA5CUJ/20240530/us-west-2/s3/aws4_request&X-Amz-Date=20240530T154157Z&X-Amz-SignedHeaders=host&X-Amz-Expires=120&X-Amz-Signature=4622e3ccbbffb48b80fbcd03f6f9c659e43a6b16e0296510dc12084a1e8e7457&itok=wLh2UEkN)
![148500-Thumbnail Image.png](https://d1rbsgppyrdqq4.cloudfront.net/s3fs-public/styles/width_400/public/2021-07/148500-Thumbnail%20Image.png?versionId=125A9Rnxu_gA2DecgxX1e2XCzJ1IsdWR&X-Amz-Content-Sha256=UNSIGNED-PAYLOAD&X-Amz-Algorithm=AWS4-HMAC-SHA256&X-Amz-Credential=AKIASBVQ3ZQ42ZLA5CUJ/20240618/us-west-2/s3/aws4_request&X-Amz-Date=20240618T082455Z&X-Amz-SignedHeaders=host&X-Amz-Expires=120&X-Amz-Signature=053694633ff0aad2f4ec4a5c392bce544978693676867118334e9eca79c0aebc&itok=DVCXRfhn)
As life expectancy increases worldwide, age related diseases are becoming greater health concerns. One of the most prevalent age-related diseases in the United States is dementia, with Alzheimer’s disease (AD) being the most common form, accounting for 60-80% of cases. Genetics plays a large role in a person’s risk of developing AD. Familial AD, which makes up less than 1% of all AD cases, is caused by autosomal dominant gene mutations and has almost 100% penetrance. Genetic risk factors are believed to make up about 49%-79% of the risk in sporadic cases. Many different genetic risk factors for both familial and sporadic AD have been identified, but there is still much work to be done in the field of AD, especially in non-Caucasian populations. This review summarizes the three major genes responsible for familial AD, namely APP, PSEN1 and PSEN2. Also discussed are seven identified genetic risk factors for sporadic AD, single nucleotide polymorphisms in the APOE, ABCA7, NEDD9, CASS4, PTK2B, CLU, and PICALM genes. An overview of the main function of the proteins associated with the genes is given, along with the supposed connection to AD pathology.
Vertebrate studies suggest that surviving anoxia requires the maintenance of ATP despite the loss of aerobic metabolism in a manner that prevents a disruption of ionic homeostasis. Instead, the abilities to maintain a hypometabolic state with low ATP and tolerate large disturbances in ionic status appear to contribute to the higher anoxia tolerance of adults. Furthermore, metabolomics experiments support this notion by showing that larvae had higher metabolic rates during the initial 30 min of anoxia and that protective metabolites were upregulated in adults but not larvae. Lastly, I investigated the genetic variation in anoxia tolerance using a genome wide association study (GWAS) to identify target genes associated with anoxia tolerance. Results from the GWAS also suggest mechanisms related to protection from ionic and oxidative stress, in addition to a protective role for immune function.
![155320-Thumbnail Image.png](https://d1rbsgppyrdqq4.cloudfront.net/s3fs-public/styles/width_400/public/2021-08/155320-Thumbnail%20Image.png?versionId=t3F9fCVuhM07xtWc2d0Japo2FyzLRD8g&X-Amz-Content-Sha256=UNSIGNED-PAYLOAD&X-Amz-Algorithm=AWS4-HMAC-SHA256&X-Amz-Credential=AKIASBVQ3ZQ42ZLA5CUJ/20240618/us-west-2/s3/aws4_request&X-Amz-Date=20240618T141931Z&X-Amz-SignedHeaders=host&X-Amz-Expires=120&X-Amz-Signature=5b7af377d9e1a696db2a2700fc62880f87360a975eba994bde1686e31f7db63c&itok=WR6vz6NE)