But Dr. Barzilai, a professor of medicine and molecular genetics, said the answer might lie in mutations in three genes that have a role in cholesterol and lipoproteins.
Mutations in three genes (CACNA1A, ATP1A2 and SCN1A) have been detected in familial and in sporadic cases.
MSUD is genetically caused by disruptive mutations in three genes including the BCKDHA, the BCKDHB, and the DBT.
He found that mutations in three genes resulted in a "situation resembling a poorly planned public transport system".
Mutations in three genes encoding neural ion channels have been described in patients with familial hemiplegic migraine (FHM), a rare autosomal dominant form of migraine with aura [6].
Causal mutations in three genes have been identified for familial hemiplegic migraine (FHM), a rare and severe, autosomal dominantly inherited subtype of migraine with aura [9 11].
Thirty 18- to 24-mer oligonucleotide probes were designed to target the most frequent mutations in three polymorphic loci of Sinorhizobium meliloti and S. medicae.
This enabled the researchers to detect mutations in three genes GNPTAB, GNPTG, and NAGPA involved in the function of lysosomes, the cellular sacs where debris gets recycled.
Mutations in three genes encoding neural ion channels, CACNA1A, ATP1A2, and SCN1A, have been described in patients with familial hemiplegic migraine (FHM), a rare monogenic, autosomal dominant form of migraine with aura [5].
Genetic studies of a rare, and more severe migraine subtype, Familial Hemiplegic Migraine (FHM), have identified mutations in three causal genes that code for ion channels involved in neuronal signalling and have provided hypotheses applicable to common migraine [8].
Mutations in three different genes, two ion-channel genes and one encoding an ATP exchanger, CACNA1A, ATP1A2 and SCN1A are all responsible for the FHM phenotype, thus indicating a genetic heterogeneity for this disorder.
