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Louis Ptáček
Louis Ptáček is an American neurologist and professor of Czech origin. He contributed to the field of genetics and neuroscience. He was also an HHMI investigator from 1997 to 2018. His chief areas of research include the understanding of inherited Mendelian disorders and circadian rhythm genes. Currently, Ptáček is a neurology professor and a director of the Division of Neurogenetics in University of California, San Francisco, School of Medicine. His current investigations primarily focus on extensive clinical studies in families with hereditary disorders, which include identifying and characterizing the genes responsible for neurological variations. Background and education In 1982, Louis Ptáček earned his Bachelor of Science degree in mathematics from the University of Wisconsin-Madison. In 1986, he received his Doctor of Medicine degree from the University of Wisconsin-Madison Medical School. During his neurology residency at University of Utah, he met a 28-year-old fem ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetics
Genetics is the study of genes, genetic variation, and heredity in organisms.Hartl D, Jones E (2005) It is an important branch in biology because heredity is vital to organisms' evolution. Gregor Mendel, a Moravian Augustinians, Augustinian friar working in the 19th century in Brno, was the first to study genetics scientifically. Mendel studied "trait inheritance", patterns in the way traits are handed down from parents to offspring over time. He observed that organisms (pea plants) inherit traits by way of discrete "units of inheritance". This term, still used today, is a somewhat ambiguous definition of what is referred to as a gene. Phenotypic trait, Trait inheritance and Molecular genetics, molecular inheritance mechanisms of genes are still primary principles of genetics in the 21st century, but modern genetics has expanded to study the function and behavior of genes. Gene structure and function, variation, and distribution are studied within the context of the Cell (bi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protein-coding genes and non-coding genes. During gene expression (the synthesis of Gene product, RNA or protein from a gene), DNA is first transcription (biology), copied into RNA. RNA can be non-coding RNA, directly functional or be the intermediate protein biosynthesis, template for the synthesis of a protein. The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population (biology), population of a given species. The genotype, along with environmental and developmental factors, ultimately determines the phenotype ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Andersen–Tawil Syndrome
Andersen–Tawil syndrome, also called Andersen syndrome and long QT syndrome 7, is a rare genetic disorder affecting several parts of the body. The three predominant features of Andersen–Tawil syndrome include disturbances of the electrical function of the heart characterised by an abnormality seen on an Electrocardiography, electrocardiogram (a long QT interval) and a tendency to Heart arrhythmia, abnormal heart rhythms, physical characteristics including low-set ears and a Micrognathism, small lower jaw, and intermittent periods of muscle weakness known as Hypokalemic periodic paralysis, hypokalaemic periodic paralysis. Andersen–Tawil syndrome is inherited in an autosomal dominant pattern. It is caused in most cases by a mutation in the Kir2.1, ''KCNJ2'' gene which encodes an ion channel that transports potassium out of cardiac muscle cells. The arrhythmias seen in the condition can be treated with flecainide or Beta blocker, beta-blockers, but an Implantable cardioverter- ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paramyotonia Congenita
''Paramyotonia congenita'' (PC) is a rare congenital autosomal dominant neuromuscular disorder characterized by "paradoxical" myotonia. This type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia congenita, is alleviated by exercise. PC is also distinguished as it can be induced by cold temperatures. Although more typical of the periodic paralytic disorders, patients with PC may also have potassium-provoked paralysis. PC typically presents within the first decade of life and has 100% penetrance. Patients with this disorder commonly present with myotonia in the face or upper extremities. The lower extremities are generally less affected. While some other related disorders result in muscle atrophy, this is not normally the case with PC. This disease can also present as hyperkalemic periodic paralysis and there is debate as to whether the two disorders are actually distinct. Symptoms and signs Patients ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Brain
The brain is an organ (biology), organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It consists of nervous tissue and is typically located in the head (cephalization), usually near organs for special senses such as visual perception, vision, hearing, and olfaction. Being the most specialized organ, it is responsible for receiving information from the sensory nervous system, processing that information (thought, cognition, and intelligence) and the coordination of motor control (muscle activity and endocrine system). While invertebrate brains arise from paired segmental ganglia (each of which is only responsible for the respective segmentation (biology), body segment) of the ventral nerve cord, vertebrate brains develop axially from the midline dorsal nerve cord as a brain vesicle, vesicular enlargement at the rostral (anatomical term), rostral end of the neural tube, with centralized control over all body segments. All vertebr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heart
The heart is a muscular Organ (biology), organ found in humans and other animals. This organ pumps blood through the blood vessels. The heart and blood vessels together make the circulatory system. The pumped blood carries oxygen and nutrients to the tissue, while carrying metabolic waste such as carbon dioxide to the lungs. In humans, the heart is approximately the size of a closed fist and is located between the lungs, in the middle compartment of the thorax, chest, called the mediastinum. In humans, the heart is divided into four chambers: upper left and right Atrium (heart), atria and lower left and right Ventricle (heart), ventricles. Commonly, the right atrium and ventricle are referred together as the right heart and their left counterparts as the left heart. In a healthy heart, blood flows one way through the heart due to heart valves, which prevent cardiac regurgitation, backflow. The heart is enclosed in a protective sac, the pericardium, which also contains a sma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Muscle
Muscle is a soft tissue, one of the four basic types of animal tissue. There are three types of muscle tissue in vertebrates: skeletal muscle, cardiac muscle, and smooth muscle. Muscle tissue gives skeletal muscles the ability to muscle contraction, contract. Muscle tissue contains special Muscle contraction, contractile proteins called actin and myosin which interact to cause movement. Among many other muscle proteins, present are two regulatory proteins, troponin and tropomyosin. Muscle is formed during embryonic development, in a process known as myogenesis. Skeletal muscle tissue is striated consisting of elongated, multinucleate muscle cells called muscle fibers, and is responsible for movements of the body. Other tissues in skeletal muscle include tendons and perimysium. Smooth and cardiac muscle contract involuntarily, without conscious intervention. These muscle types may be activated both through the interaction of the central nervous system as well as by innervation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myotonia
Myotonia is a symptom of a small handful of certain neuromuscular disorders characterized by delayed relaxation (prolonged contraction) of the skeletal muscles after voluntary contraction or electrical stimulation, and the muscle shows an abnormal EMG. Myotonia is the defining symptom of many channelopathies (diseases of ion channel transport) such as myotonia congenita, paramyotonia congenita and myotonic dystrophy. Brody disease (a disease of ion pump transport) has symptoms similar to myotonia congenita, however, the delayed muscle relaxation is pseudo-myotonia as the EMG is normal. Other diseases that exhibit pseudo-myotonia are myositis, glycogen storage diseases, hyperkalemic periodic paralysis, root disease, anterior horn cell disorders, Isaacs syndrome, and Hoffmann syndrome. Generally, repeated contraction of the muscle can alleviate the myotonia and relax the muscles thus improving the condition, however, this is not the case in paramyotonia congenita. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Periodic Paralysis
Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis from common triggers such as cold, heat, high carbohydrate meals, not eating, stress or excitement and physical activity of any kind. The underlying mechanism of these diseases are malfunctions in the ion channels in skeletal muscle cell membranes that allow electrically charged ions to leak in or out of the muscle cell, causing the cell to depolarize and become unable to move. The symptoms of periodic paralysis can also be caused by hyperthyroidism, and are then labeled thyrotoxic periodic paralysis; however, if this is the underlying condition there are likely to be other characteristic manifestations, enabling a correct diagnosis. Types Periodic paralysis is an autosomal dominant myopathy with considerable variation in penetrance, leading to a spectrum of familial phenotypes (only one parent needs to carry the gene mutation to affect the children, but not all family members who share the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurological Disorder
Neurological disorders represent a complex array of medical conditions that fundamentally disrupt the functioning of the nervous system. These disorders affect the brain, spinal cord, and nerve networks, presenting unique diagnosis, treatment, and patient care challenges. At their core, they represent disruptions to the intricate communication systems within the nervous system, stemming from genetic predispositions, environmental factors, infections, structural abnormalities, or degenerative processes. The impact of neurological disorders is profound and far-reaching. Conditions like epilepsy create recurring seizures through abnormal electrical brain activity, while multiple sclerosis damages the protective myelin covering of nerve fibers, interrupting communication between the brain and body. Parkinson's disease progressively affects movement through the loss of dopamine-producing nerve cells, and strokes can cause immediate and potentially permanent neurological damage by inter ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Circadian Rhythm
A circadian rhythm (), or circadian cycle, is a natural oscillation that repeats roughly every 24 hours. Circadian rhythms can refer to any process that originates within an organism (i.e., Endogeny (biology), endogenous) and responds to the environment (is Entrainment (chronobiology), entrained by the environment). Circadian rhythms are regulated by a circadian clock whose primary function is to rhythmically co-ordinate biological processes so they occur at the correct time to maximize the fitness of an individual. Circadian rhythms have been widely observed in animals, plants, fungi and cyanobacteria and there is evidence that they evolved independently in each of these kingdoms of life. The term ''circadian'' comes from the Latin ', meaning "around", and ', meaning "day". Processes with 24-hour cycles are more generally called diurnal rhythms; diurnal rhythms should not be called circadian rhythms unless they can be confirmed as endogenous, and not environmental. Although ci ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Advanced Sleep Phase Disorder
Advanced Sleep Phase Disorder (ASPD), also known as the advanced sleep-phase type (ASPT) of circadian rhythm sleep disorder, is a condition that is characterized by a recurrent pattern of early evening (e.g. 7-9 PM) sleepiness and very early morning awakening (e.g. 2-4 AM). This sleep phase advancement can interfere with daily social and work schedules, and results in shortened sleep duration and excessive daytime sleepiness. The timing of sleep and melatonin levels are regulated by the body's central circadian clock, which is located in the suprachiasmatic nucleus in the hypothalamus. Symptoms Individuals with ASPD report being unable to stay awake until conventional bedtime, falling asleep too quickly and/or early in the evening, and being unable to stay asleep until their desired waking time, experiencing early morning insomnia. When someone has advanced sleep phase disorder their melatonin levels and core body temperature cycle hours earlier than an average person. These sympt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
