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Myostatin (also known as growth differentiation factor 8, abbreviated GDF8) is a protein that in humans is encoded by the MSTN gene. [6] Myostatin is a myokine that is produced and released by myocytes and acts on muscle cells to inhibit muscle growth. [7] Myostatin is a secreted growth differentiation factor that is a member of the TGF beta ...
Myostatin-related muscle hypertrophy is a rare genetic condition characterized by reduced body fat and increased skeletal muscle size. [1] Affected individuals have up to twice the usual amount of muscle mass in their bodies, but increases in muscle strength are not usually congruent. [ 2 ]
Double-muscled cattle are breeds of cattle that carry one of seven known mutations that limits and reduces the activity of the myostatin protein. Normally, myostatin limits the number of muscle fibers present at birth, and interfering with activity of this protein causes animals to be born with higher numbers of muscle fibers, consequently augmenting muscle growth.
Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes.It focuses on genomic, epigenomic and transcript alterations in cancer. Cancer is a genetic disease caused by accumulation of DNA mutations and epigenetic alterations leading to unrestrained cell proliferation and neoplasm formation.
Cancers and tumors are caused by a series of mutations. Each mutation alters the behavior of the cell somewhat. Carcinogenesis, also called oncogenesis or tumorigenesis, is the formation of a cancer, whereby normal cells are transformed into cancer cells.
As a result, Smad4 was first termed Deleted in Pancreatic Cancer Locus 4 (DPC4) upon its discovery. [37] Germline Smad4 mutations are partially responsible for genetic disposition for human familial juvenile polyposis , which puts a person at high risk of developing potentially cancerous gastrointestinal polyps .
Studies have shown that mutations in SMAD3 gene promote colorectal cancer in mice. [26] [27] [28] The altered activity of SMAD3 was linked to chronic inflammation and somatic mutations that contribute to chronic colitis and the development of colorectal cancer. [28]
In whole genome sequencing of different types of cancers, large numbers of mutations were found in two breast cancers (about 20,000 point mutations [43]), 25 melanomas (9,000 to 333,000 point mutations [44]) and a lung cancer (50,000 point mutations and 54,000 small additions and deletions [45]). Genome instability is also referred to as an ...