Luis Rajman, Karolina Chwalek, David A. Sinclair, Cell Metabolism, Volume 27, Issue 3, 6 March 2018, Pages 529-547, ISSN 1550-4131, doi:10.1016/j.cmet.2018.02.011.
Nicotinamide adenine dinucleotide (NAD), the cell’s hydrogen carrier for redox enzymes, is well known for its role in redox reactions. More recently, it has emerged as a signaling molecule. By modulating NAD+-sensing enzymes, NAD+ controls hundreds of key processes from energy metabolism to cell survival, rising and falling depending on food intake, exercise, and the time of day. NAD+ levels steadily decline with age, resulting in altered metabolism and increased disease susceptibility. Restoration of NAD+ levels in old or diseased animals can promote health and extend lifespan, prompting a search for safe and efficacious NAD-boosting molecules that hold the promise of increasing the body’s resilience, not just to one disease, but to many, thereby extending healthy human lifespan.
Wednesday, March 7, 2018
Friedreich Ataxia: Clinical Report of an Uncommon Point Mutation (R165C)
Rosa María García Tercero*, Javier Gualda Heras, Catalina Diaz Urrea, Pedro Barredo Benitez, Adolfo Heras Pérez, Fátima López González, Blanca serrano Serrano, Elena Elvira Soler and Carmina Díaz Marín; J Neurol Disord 2018, 6:1 DOI:10.4172/2329-6895.1000376
Despite of been inherited as a recessive disease, Friedreich ataxia (FRDA) there is not such clinical homogeneity as in other recessive disorders and due to the atypical presentation of our patient, another sensitives neuropathies were taken into account and a differential diagnosis were made with them (hereditary sensory and autonomic neuropathy, Fabry disease, Familial amyloidotic polyneuropathy, Adrenomyeloneuropathy etc.) but the normality of the probes that have been done and the lack of another symptoms related with these diseases caused that Friedreich ataxia was suspected. With this case we make relevance that not all patients have an early onset, or a severe phenotype and a good neurologic exploration is important to recognize them. Once the diagnosis is made, it is necessary to follow them in consults paying attention to heart problems and giving them genetic counseling.
Despite of been inherited as a recessive disease, Friedreich ataxia (FRDA) there is not such clinical homogeneity as in other recessive disorders and due to the atypical presentation of our patient, another sensitives neuropathies were taken into account and a differential diagnosis were made with them (hereditary sensory and autonomic neuropathy, Fabry disease, Familial amyloidotic polyneuropathy, Adrenomyeloneuropathy etc.) but the normality of the probes that have been done and the lack of another symptoms related with these diseases caused that Friedreich ataxia was suspected. With this case we make relevance that not all patients have an early onset, or a severe phenotype and a good neurologic exploration is important to recognize them. Once the diagnosis is made, it is necessary to follow them in consults paying attention to heart problems and giving them genetic counseling.
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