Research Reports

Spinal muscular atrophy (SMA) is a rare inherited genetic disease that occurs due to loss of nerve cells, known as motor neurons.

Sarcopenia is an age-related disease, leading to significant loss of muscles after a particular age. Though there is a constant loss of muscles in the body after the age of 30, but it starts accelerating when a patient approaches seventh decade of the life.

Synovial sarcoma is a rare form of soft-tissue sarcoma, which accounts for 5–10% of all soft-tissue tumors in the world. It is further divided into four stages (I, II, II, and IV), depending on the size of tumor.

Rhabdomyosarcoma (RMS) is a rare type of cancer, mostly happening in soft tissues or hollow organs such as bladder or uterus. The disease affects children most of the times, and starts in head and neck area, urinary bladder, vagina, uterus or testes, arms, and legs.

MG is a neuromuscular disorder, which is characterized by muscle weakness and muscle fatigue. The disease becomes apparent during adulthood, but symptoms may occur at any age.

IL-6 is transcribed by IL-6 gene that encodes a cytokine, which functions in inflammation and maturation of B cells. The IL-6 protein can induce fever in patients suffering from autoimmune diseases, thereby acting as endogenous pyrogens.

Wnt or β-Catenin signaling pathway plays a key role in the development of pluripotent cells and embryonic development. The pathway regulates cell-to-cell interaction, activates blastocyst, accelerates trophoblast development, accelerate chorion-allantois fusion and implantation.

Epidermal growth factor receptors (EGFR) are a group of receptor tyrosine kinase (RTK) that plays a major role in cell proliferation, survival and differentiation. In most of the cancer, EGFR are amplified and overexpressed, due to dysregulation, resulting in cancer development.

Cell cycle inhibitors include cyclin inhibitors and cyclin-dependent kinases (CDKs), which plays major role in developing new class of anti-cancer therapies. Also, cell cycle inhibitors in combination with chemotherapy, overcome drug resistance and improve cytotoxic efficacy. CDKs are rational targets for cancer treatment, that could restore cell-cycle checkpoints and may induce apoptosis.

Cathepsin K is a protease enzyme which is coded by CTSK gene. The function associated with the gene involves bone remodelling and resorption. Cathepsin K is a member of peptidase C1 protein family and expressed mainly in osteoclasts.

Angiopoietin (ANG) receptor plays a crucial role in regulation of vascular permeability and pathological vascular remodelling during tumour angiogenesis, metastasis and inflammation. Thus, it has emerged as a new clinical approach for the development of therapeutics which treat cancer and ophthalmological diseases.

Androgens are responsible for the development of male characteristics by binding to androgen receptors. Androgen receptor plays an important role in the development and progression of prostate cancer. Thus, it has been an attractive target for the clinical interventions and treatment of prostate cancer.

Tic disorder is a type of mental disorder, characterized by sudden and nonrhythmic movements. According to the World Health Organisation (WHO), this disease can be categorized into five types; transient, combined vocal and multiple motor, unspecified, and chronic motor tic disorder.

Spasticity is a condition in which certain muscles are continuously contracted. The constant muscle contraction causes stiffness or tightness of the muscles and can interfere with normal movement, speech and gait in a patient.

Polymyalgia rheumatica is an inflammatory disorder which causes stiffness and aching, and usually affects adults over the age of 50 years. This disease affects women somewhat more than men. The cause of polymyalgia rheumatica is unknown.

Musculoskeletal pain is a known consequence of repetitive strain, overuse, and work-related musculoskeletal disorders. These injuries include a variety of disorders that cause pain in muscles, bones, joints, or surrounding structures.

Intermittent claudication refers to aching or squeezing pain in thighs, buttocks or feet during exercise, due to insufficient blood circulation resulting from peripheral arterial disease. The probability of developing peripheral arterial disease increases with the age.

Fibrodysplasia ossificans progressiva (FOP), also known as myositis ossificans progressive, is a rare inherited connective tissue disorder characterized by abnormal bone development in ligaments, tendons, and skeletal muscles. Precisely, FOP causes the body's skeletal muscles and soft connective tissues to undergo a metamorphosis, transforming into bone, gradually locking joints and making movement difficult.

Fatigue is referred to as lack of energy and feeling of tiredness, both physically and mentally. There are several causes for fatigue, and it is also a common side effect of certain medicines. Symptoms associated with the fatigue are weight loss, fever, anxiety, depression, muscle weakness, vomiting, diarrhoea, and chest pain.

Dystonia is a type of movement disorder in which sustained muscle contraction occurs. The twisting and repetitive movements are the prominent characteristics observed in patients with this disease. Some of the early symptoms of the disease are dragging foot after running, deterioration in handwriting, foot cramps, tremor, and speech difficulties.

Dyskinesia is a type of movement disorder, characterized by irregular and involuntary muscle movements, and diminished voluntary movements. This disease can occur in patients taking antipsychotic medication or having severe mental disorders, such as Parkinson’s and Huntington’s disease. Levodopa-induced dyskinesia is observed in patients with Parkinson’s disease.

Degenerative intervertebral-disc disease is characterized by degeneration of one or more disc in the vertebrae. The function of the intervertebral disc is to provide the cushioning between vertebrae. It has been observed that intervertebral discs of the lumbar region are mostly affected.

Blepharospasm is an abnormal involuntary twitching of eyelid. The actual cause of the disease is still unknown but it has been observed that the disease occurs due to abnormal functioning of basal ganglion, which is responsible for the movement of muscles.

Ataxia is a type of movement disorder characterized by lack of muscle control or coordination of voluntary movements. Some of the symptoms observed in the patients with ataxia are poor coordination, change in speech, difficulty in swallowing, and unsteady walk.