CMMB 403

: In an observational study, the developmental stages of an axolotl’s embryo were observed and scientist were able to identify a series of changes in the gene expression that aided in understanding the axolotl’s regenerative abilities. The axolotl; also known as the Mexican salamander, is an amphibian related to the tiger salamander that is known for its ability to completely regenerate limbs and organs. Cellular regeneration is the regrowth of a damaged or missing organ part from the remaining tissue and that’s why this study is important to both the biological and medical communities. Through this study, biologist were able to identify what in the axolotl’s early development gives it its unique properties and how those genes are reactivated to trigger limb formation in an adult. Also, by studying the genes that allow for the axolotl to completely regenerate

Affecting only one in every 2 million people Fibrodysplasia ossificans progressiva (FOP) is one of the rarest genetic disorders of congenital skeleton malformations; identified by congenital malformation of the big toe at birth. Flare-ups occur by soft tissue injury followed by immobility. A mutation in the activin receptor IA/activin-like kinase 2 (ACVR1/ALK2), and bone protein (BMP) type I receptor were reported in all cases of FOP, making this a specific disease causing mutations in the human genome (Kaplan, 28 O). However, there is no current cure for FOP there are new developing treatments. The benefit to studying this rare

The FBN1 gene is responsible for providing instructions for the production of fibrillin-1, which is a protein that is secreted into the matrix of connective tissue (“FBN1,” 2015). Therefore, a mutation in this gene can cause the excessive production of fibrillin-1, and when fibrillin-1 binds to other proteins they form threads called microfibrils. Microfibrils contain a growth factor called transforming growth factor beta or TGF-β (“FBN1,” 2015), so when there is an increase of TGF-β, problems with the connective tissue throughout the body can occur (“What is Marfan Syndrome? | The Marfan Foundation,” n.d.), more of these problems will be elaborated upon further in the report. The genetic mutation in the FBN1 gene is usually hereditary, but it is possible for one to be the first in their family to have this genetic mutation. If one has this mutation

Achondroplasia (ACH) is the most common form of short-limb dwarfism occuring in 1 in 15,000 to 28,000 births and appears to be slightly more prevalent in females, but indiscriminent toward race (1-3). Evidence has been found in Egypt for cases of ACH dating back as far as 4500 B.C. (4). In simplest terms, ACH is a disease where the dwarfing of bones formed in the cartilage occurs (5). There are many features that accompany this disease including rhizomelic (proximal) shortening of the extremities, megalencephaly (enlarged brain), short stature, trident hand, and frontal bossing (prominent forehead) (1, 3, 4, 6-8). Expression of this gene at high levels is primarily found in cells of the nervous system and the cartilage rudiments and

Researchers believe the mutation of this gene causes too much bone to grow instead of muscle.

Fibrodysplasia Ossificans Progressiva, FOP, is a rare and disabling bone disease. It is caused by a genetic mutation of the gene that controls the growth and development of the bones and muscles. The man who discovered this game-changing information is Dr. Kaplan. “The discovery of the mutation immediately suggests an approach to treatment: either to block the renegade proteins or to destroy the message coming from the mutant copy of the gene that creates the renegade proteins, says Kaplan” (Cause of: FOP). Muscle and connective tissues, as well as tendons and ligaments, are gradually ossified, meaning they are replaced by bone. This limits and eventually permanently prohibits movement. FOP usually starts

Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal dominant disorder caused by germline mutations in the folliculin (FLCN) gene (Nookala et al., 2012; Nickerson et al., 2008; Menko et al., 2012; Hartman et a., 2009). Patients with BHD initially develop fibrofolliculomas, typically as benign facial tumors, and lung cysts; whereby, increasing their risk to develop renal cell carcinoma (RCC) and pneumothorax (Nookala et a., 2012; Menko et al., 2012; Hartman et al., 2009). The majority of the BHD patient population contain germline mutations in FLCN exon 11, which is a hotspot for disease causing mutations. BHD research predicts mutations in FLCN results in a truncated folliculin protein lacking its c-terminal end, thus, suggestion the

Below I have explained the sequence and rate of each development from birth – 19 years old in great detail.

SMAD4: this gene is responsible for transmitting of chemical signals from the cell surface of TGFb pathway. TGFB attaches to the cell surface sends signals to turn on the SMAD4 gene which complex with other proteins and sends signals into the nucleus to regulate the growth and proliferation of specific areas in

Achondroplasia, is a bone disorder that causes dwarfism, dwarfism is a condition of short stature adults. The cause of achondroplasia is when they are fetal development, if you are achondroplasia is that a lot cartilage does not convert into your bones. The symptoms of achondroplasia are at birth, the child are likely to have a short stature, short arms and legs, short fingers and also underdeveloped area. The treatment, there is no cure or any treatment for this disorder. They’re some doctor that use growth hormones to increase the growth of the child’s bones, those the long term effects won’t be

The concept of developmental field defects (DFDs) given by Martinez-Frias [59] tries to explain that these associated syndromes may have complex aetiology. It may be that a number of signalling pathways are involved in producing field defects and that too at different timings. The timing could possibly explain the type of phenotype- isolated or syndromic [37].

On FGFR-1, the mutation is located on chromosome 8p11.2-p11 and FGFR-2 on chromosome 10q26. On the FGFR-1, the mutation on chromosome 8 is marked by a C to G transversion in exon 5, with a proline to arginine substitution in the extracellular domain. In most cases genotyping has shown variable expressivity or different mutations in the same gene. Studies have shown that that Pfeiffer syndrome has been linked to the advanced paternal age of

Hemifacial hypertrophy may sometimes be associated with deformities of the skeletal system such as polydactyly, syndactyly, club foot, and cerebral enlargement etc. [6] The multisystem involvement has resulted in etiological heterogeneity and no single theory explains the etiology adequately. [1] Heredity, atypical form of twinning, endocrine dysfunction, and anomalies of vascular/lymphatic system and disturbances of CNS are all implicated in the suggested etiology.

Cystic fibrosis is one of the most common genetic disorders. Patients with cystic fibrosis have many serious medical conditions and the majority only live to their mid-thirties. I will be looking at many different aspects of the disease such as, phenotypes, genotypes, and inheritance patterns. Also how the disease is diagnosed, treated, and the prognosis of the disease.

In research, genetic engineering techniques are used to study and carry out gene knockout experiments, gain of function experiments, tracking experiments, and expression studies. All of these allow scientists the ability to better understand the working of human genetics, and develop improved methods of genetic manipulation, allowing for the continuation of genetic scientific progression.