Familial Als
Familial Als - Related Videos
02:47
Protein Families
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2020
Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism. Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members. If these new proteins contain similar amino acids in key locations, protein...
01:57
Gene Families
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2020
Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate. Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
02:00
Simultaneous Plethysmography and Electromyography Recording in an ALS Mouse Model
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2025
Source: Jensen, V. N., et al. Repeated Measurement of Respiratory Muscle Activity and Ventilation in Mouse Models of Neuromuscular Disease. J. Vis. Exp. (2017).This video demonstrates the method for recording simultaneous plethysmography and electromyography signals in a freely moving ALS mouse model. The procedure involves using implanted electrodes and a transmitter to capture muscle activity, alongside a plethysmography chamber to monitor breathing patterns, to investigate the role of...
15:48
ALS - Motor Neuron Disease: Mechanism and Development of New Therapies
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Cited by 1 •
2007
Jeffrey D. Rothstein speaks about the pathology and mechanisms underlying amyotrophic lateral sclerosis or ALS, advances in ALS research, and current strategies towards the development of therapies.
01:30
Family Therapy
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2025
Family therapy conceptualizes psychological challenges as arising from dysfunctional interactions within the family unit, rather than as isolated issues within individuals. This approach seeks to address and transform the patterns of communication, roles, and relationships within families to promote healthier dynamics and emotional well-being for all members. Strategic Family Therapy Strategic family therapy emphasizes resolving communication barriers and improving problem-solving abilities...
FAQs
Disease-associated variants in C9orf72, SOD1, FUS, and TARDBP can affect different cellular processes rather than a single mechanism. The overview links these genes to RNA processing, protein quality control, and other pathways needed for motor-neuron survival. Comparing these molecular effects helps researchers explain why inherited disease can involve shared motor-neuron degeneration through biologically diverse routes.
RNA processing helps manage the information needed for cellular function, while protein quality control helps maintain properly functioning proteins. Familial ALS-associated genetic changes can disrupt these essential processes, creating molecular conditions that threaten motor-neuron survival. Studying both pathways allows investigators to connect specific genetic findings with cellular dysfunction and identify mechanisms that may be relevant beyond inherited disease.
These genes provide complementary entry points into familial ALS biology. Their association with disease highlights several mechanisms, including altered RNA processing and impaired protein quality control, instead of implying that every case follows one identical molecular route. Examining the group can therefore reveal shared vulnerabilities in motor neurons while preserving attention to differences among genetic forms.
Inherited cases can provide identifiable genetic starting points for investigating motor-neuron degeneration. The resulting studies may clarify cellular processes that are also relevant to other forms of ALS, even when those forms do not arise from the same inherited variants. This broader value makes familial ALS research useful for connecting genetic discoveries with general disease biology.
Because familial ALS is associated with inherited disease-risk variants, genetic testing can investigate whether relevant genetic changes are present. Genetic counseling provides context for understanding what such findings may mean within an inherited disease setting. Together, these activities support informed interpretation of genetic information and are important clinical and research applications of familial ALS knowledge.
Cellular and animal models are designed to reproduce features of familial ALS so investigators can examine disease mechanisms in experimental systems. These models connect genetic variants with changes in motor-neuron biology and provide settings for evaluating potential molecular targets. Their value lies in translating mechanistic observations into evidence that can guide precision-therapy development.